Gphn Variant Search Result - Rat Genome Database

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792 records found for search term Gphn

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150532269	CV1294763	single nucleotide variant	NM_020806.5(GPHN):c.-1C>T	not provided [RCV001752255]	uncertain significance	14	66508527	66508527	Human		name
127284285	CV1102395	single nucleotide variant	NM_020806.5(GPHN):c.64+7G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001449231]	likely benign	14	66508598	66508598	Human	1	name
127330083	CV1144699	single nucleotide variant	NM_020806.5(GPHN):c.64+9G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001487856]	likely benign	14	66508600	66508600	Human	1	name
151833006	CV1456134	single nucleotide variant	NM_020806.5(GPHN):c.64+6C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002050909]	uncertain significance	14	66508597	66508597	Human	1	name
156263790	CV2100810	single nucleotide variant	NM_020806.5(GPHN):c.64+6C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002877365]	uncertain significance	14	66508597	66508597	Human	1	name
156212809	CV2114567	single nucleotide variant	NM_020806.5(GPHN):c.65-6A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002932131]	likely benign	14	66681101	66681101	Human	1	name
11551313	CV255036	single nucleotide variant	NM_020806.5(GPHN):c.65-9T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001518178]\|not provided [RCV001689903]\|not specified [RCV000252877]	benign	14	66681098	66681098	Human	1	name
402475968	CV2924336	single nucleotide variant	NM_020806.5(GPHN):c.64+3A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505723]	uncertain significance	14	66508594	66508594	Human	1	name
405254545	CV3175402	deletion	NM_020806.5(GPHN):c.65-9del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003871669]	likely benign	14	66681096	66681096	Human	1	name
597938184	CV3852766	single nucleotide variant	NM_020806.5(GPHN):c.64+9G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005187166]	likely benign	14	66508600	66508600	Human	1	name
15179934	CV778293	single nucleotide variant	NM_020806.5(GPHN):c.64+8G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000951634]	benign	14	66508599	66508599	Human	1	name
26920683	CV851571	single nucleotide variant	NM_020806.5(GPHN):c.64+6C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001060238]	uncertain significance	14	66508597	66508597	Human	1	name
26896434	CV857388	single nucleotide variant	NM_020806.5(GPHN):c.65-1G>C	Seizure [RCV001078183]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003883166]	likely pathogenic\|uncertain significance	14	66681106	66681106	Human	3	name
127277525	CV1080604	single nucleotide variant	NM_020806.5(GPHN):c.828+7C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001407900]	likely benign	14	66924299	66924299	Human	1	name
127317731	CV1123838	single nucleotide variant	NM_020806.5(GPHN):c.64+10G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001465976]	likely benign	14	66508601	66508601	Human	1	name
127303458	CV1144700	single nucleotide variant	NM_020806.5(GPHN):c.295-8A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001499404]	likely benign	14	66879931	66879931	Human	1	name
127327724	CV1144703	single nucleotide variant	NM_020806.5(GPHN):c.963+7A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001506778]	likely benign	14	66965332	66965332	Human	1	name
150334118	CV1172609	deletion	NM_020806.5(GPHN):c.65-97del	not provided [RCV001539797]	benign	14	66681000	66681000	Human		name
151661802	CV1330033	single nucleotide variant	NM_020806.5(GPHN):c.828+1G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001823444]	likely pathogenic	14	66924293	66924293	Human	1	name
152075108	CV1544810	single nucleotide variant	NM_020806.5(GPHN):c.65-16C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002169807]	likely benign	14	66681091	66681091	Human	1	name
152155509	CV1572878	single nucleotide variant	NM_020806.5(GPHN):c.457-6A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002180070]	likely benign	14	66922660	66922660	Human	1	name
152040026	CV1592908	single nucleotide variant	NM_020806.5(GPHN):c.390-4T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002188116]	likely benign	14	66915999	66915999	Human	1	name
152130580	CV1597757	single nucleotide variant	NM_020806.5(GPHN):c.65-12A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002176748]	likely benign	14	66681095	66681095	Human	1	name
153349335	CV1693111	duplication	NM_020806.5(GPHN):c.65-97dup	not provided [RCV002275735]	likely benign	14	66680999	66681000	Human		name
156402258	CV1889307	single nucleotide variant	NM_020806.5(GPHN):c.964-4A>G	GPHN-related disorder [RCV003963598]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003069272]	likely benign	14	67023629	67023629	Human	1	name , trait , alternate_id
156378525	CV2001319	single nucleotide variant	NM_020806.5(GPHN):c.64+16G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002653485]	likely benign	14	66508607	66508607	Human	1	name
155999496	CV2074533	single nucleotide variant	NM_020806.5(GPHN):c.457-5T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002843339]	likely benign	14	66922661	66922661	Human	1	name
155938243	CV2075161	single nucleotide variant	NM_020806.5(GPHN):c.144-1G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002861595]	likely pathogenic	14	66776463	66776463	Human	1	name
156232826	CV2137141	single nucleotide variant	NM_020806.5(GPHN):c.294+1G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003007806]	likely pathogenic	14	66824567	66824567	Human	1	name
156098108	CV2163526	single nucleotide variant	NM_020806.5(GPHN):c.457-7C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003038472]	likely benign	14	66922659	66922659	Human	1	name
11547553	CV255037	single nucleotide variant	NM_020806.5(GPHN):c.202-6T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001515625]\|not provided [RCV001530595]\|not specified [RCV000247914]	benign	14	66824468	66824468	Human	1	name
402474392	CV2854039	single nucleotide variant	NM_020806.5(GPHN):c.143+9T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505429]	likely benign	14	66681194	66681194	Human	1	name
402479630	CV2889077	single nucleotide variant	NM_020806.5(GPHN):c.730-7G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506314]	likely benign	14	66924187	66924187	Human	1	name
405114979	CV2965444	single nucleotide variant	NM_020806.5(GPHN):c.202-3C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616279]	uncertain significance	14	66824471	66824471	Human	1	name
405115061	CV2969203	single nucleotide variant	NM_020806.5(GPHN):c.730-7G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616293]	uncertain significance	14	66924187	66924187	Human	1	name
405117920	CV2997255	single nucleotide variant	NM_020806.5(GPHN):c.389+1G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616660]	likely pathogenic	14	66880034	66880034	Human	1	name
405121172	CV3039158	single nucleotide variant	NM_020806.5(GPHN):c.730-5A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617067]	uncertain significance	14	66924189	66924189	Human	1	name
597968725	CV3791047	single nucleotide variant	NM_020806.5(GPHN):c.730-8T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005141079]	uncertain significance	14	66924186	66924186	Human	1	name
597899894	CV3796488	single nucleotide variant	NM_020806.5(GPHN):c.64+10G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005152571]	likely benign	14	66508601	66508601	Human	1	name
597848355	CV3824102	single nucleotide variant	NM_020806.5(GPHN):c.828+1G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005173341]	likely pathogenic	14	66924293	66924293	Human	1	name
597927946	CV3836925	single nucleotide variant	NM_020806.5(GPHN):c.143+5G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005185276]	uncertain significance	14	66681190	66681190	Human	1	name
597966972	CV3855683	single nucleotide variant	NM_020806.5(GPHN):c.390-7C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005194663]	likely benign	14	66915996	66915996	Human	1	name
14396825	CV612996	single nucleotide variant	NM_020806.5(GPHN):c.730-1G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001855708]\|not provided [RCV000761885]	likely pathogenic\|uncertain significance	14	66924193	66924193	Human	1	name
14705135	CV652358	single nucleotide variant	NM_020806.5(GPHN):c.390-3C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000799919]	uncertain significance	14	66916000	66916000	Human	1	name
38482339	CV941065	single nucleotide variant	NM_020806.5(GPHN):c.389+6A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001218419]	uncertain significance	14	66880039	66880039	Human	1	name
38480461	CV960096	single nucleotide variant	NM_020806.5(GPHN):c.201+3A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001234718]	uncertain significance	14	66776524	66776524	Human	1	name
126762109	CV995941	single nucleotide variant	NM_020806.5(GPHN):c.294+5G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001300293]	uncertain significance	14	66824571	66824571	Human	1	name
127242224	CV1102396	single nucleotide variant	NM_020806.5(GPHN):c.457-15T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001423695]	likely benign	14	66922651	66922651	Human	1	name
127273002	CV1102400	single nucleotide variant	NM_020806.5(GPHN):c.1293+8T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001431505]	likely benign	14	67100919	67100919	Human	1	name
127243253	CV1102402	single nucleotide variant	NM_020806.5(GPHN):c.1472+8C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001434788]	likely benign	14	67111927	67111927	Human	1	name
127309835	CV1144706	single nucleotide variant	NM_020806.5(GPHN):c.1976-7C>T	GPHN-related disorder [RCV003938862]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001481001]	likely benign	14	67168926	67168926	Human	1	name , trait , alternate_id
150488022	CV1251608	single nucleotide variant	NM_020806.5(GPHN):c.202-38A>G	not provided [RCV001674279]	benign	14	66824436	66824436	Human		name
150475918	CV1251785	single nucleotide variant	NM_020806.5(GPHN):c.143+90T>C	not provided [RCV001671983]	benign	14	66681275	66681275	Human		name
151233190	CV1316998	single nucleotide variant	NM_020806.5(GPHN):c.964-34A>G	not provided [RCV001786818]	likely benign	14	67023599	67023599	Human		name
151233271	CV1317022	single nucleotide variant	NM_020806.5(GPHN):c.202-78A>G	not provided [RCV001786843]	likely benign	14	66824396	66824396	Human		name
151726733	CV1339782	single nucleotide variant	NM_020806.5(GPHN):c.1976-3C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002004352]	uncertain significance	14	67168930	67168930	Human	1	name
151761200	CV1343335	single nucleotide variant	NM_020806.5(GPHN):c.1413+2T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002024387]	likely pathogenic	14	67110261	67110261	Human	1	name
151845890	CV1346288	single nucleotide variant	NM_020806.5(GPHN):c.201+12C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001936701]	likely benign\|uncertain significance	14	66776533	66776533	Human	1	name
151824078	CV1378603	single nucleotide variant	NM_020806.5(GPHN):c.1975+2T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002050084]	likely pathogenic	14	67165228	67165228	Human	1	name
151819070	CV1452757	single nucleotide variant	NM_020806.5(GPHN):c.2177-8C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029709]	uncertain significance	14	67180796	67180796	Human	1	name
151825739	CV1467153	single nucleotide variant	NM_020806.5(GPHN):c.1911-5T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001901310]	likely benign\|uncertain significance	14	67165157	67165157	Human	1	name
151819408	CV1514014	single nucleotide variant	NM_020806.5(GPHN):c.1144+6A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001933993]	uncertain significance	14	67058792	67058792	Human	1	name
152160712	CV1530874	single nucleotide variant	NM_020806.5(GPHN):c.1910+8A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002123142]	likely benign	14	67159496	67159496	Human	1	name
152077903	CV1531399	single nucleotide variant	NM_020806.5(GPHN):c.1293+7T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002210841]	likely benign	14	67100918	67100918	Human	1	name
152044186	CV1534401	single nucleotide variant	NM_020806.5(GPHN):c.144-13C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002088348]	likely benign	14	66776451	66776451	Human	1	name
152063756	CV1535673	single nucleotide variant	NM_020806.5(GPHN):c.201+11G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002168336]	likely benign	14	66776532	66776532	Human	1	name
152116372	CV1540966	single nucleotide variant	NM_020806.5(GPHN):c.201+17T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002197446]	likely benign	14	66776538	66776538	Human	1	name
152066473	CV1557026	single nucleotide variant	NM_020806.5(GPHN):c.202-16T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002191234]	likely benign	14	66824458	66824458	Human	1	name
152138860	CV1565257	single nucleotide variant	NM_020806.5(GPHN):c.730-15T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002083887]	likely benign	14	66924179	66924179	Human	1	name
152054858	CV1574395	single nucleotide variant	NM_020806.5(GPHN):c.144-14T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002189838]	likely benign	14	66776450	66776450	Human	1	name
152087809	CV1601334	single nucleotide variant	NM_020806.5(GPHN):c.964-20A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002093743]	likely benign	14	67023613	67023613	Human	1	name
152048615	CV1615687	single nucleotide variant	NM_020806.5(GPHN):c.389+19T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002166573]	likely benign	14	66880052	66880052	Human	1	name
152042928	CV1618129	single nucleotide variant	NM_020806.5(GPHN):c.143+13C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002206582]	likely benign	14	66681198	66681198	Human	1	name
152112981	CV1623786	single nucleotide variant	NM_020806.5(GPHN):c.963+11T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002134729]	likely benign	14	66965336	66965336	Human	1	name
152057376	CV1635184	single nucleotide variant	NM_020806.5(GPHN):c.389+13C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002089868]	likely benign	14	66880046	66880046	Human	1	name
152040266	CV1644561	single nucleotide variant	NM_020806.5(GPHN):c.1473-7C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002165582]	likely benign	14	67113011	67113011	Human	1	name
152124369	CV1665668	single nucleotide variant	NM_020806.5(GPHN):c.730-15T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002198481]	likely benign	14	66924179	66924179	Human	1	name
156061559	CV1876438	single nucleotide variant	NM_020806.5(GPHN):c.456+16A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003053363]	likely benign	14	66916085	66916085	Human	1	name
156386020	CV1893956	single nucleotide variant	NM_020806.5(GPHN):c.294+13A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003093692]	likely benign	14	66824579	66824579	Human	1	name
155993395	CV1894549	single nucleotide variant	NM_020806.5(GPHN):c.294+16C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003076222]	likely benign	14	66824582	66824582	Human	1	name
156023592	CV1899596	single nucleotide variant	NM_020806.5(GPHN):c.1007-6G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003100317]	likely benign	14	67058643	67058643	Human	1	name
156220623	CV1899753	single nucleotide variant	NM_020806.5(GPHN):c.1837-8G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003084980]	likely benign	14	67159407	67159407	Human	1	name
156379243	CV1903296	single nucleotide variant	NM_020806.5(GPHN):c.730-18T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003093141]	uncertain significance	14	66924176	66924176	Human	1	name
156096073	CV1906211	single nucleotide variant	NM_020806.5(GPHN):c.963+20A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003080411]	likely benign	14	66965345	66965345	Human	1	name
156306069	CV1912545	single nucleotide variant	NM_020806.5(GPHN):c.1837-4G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002599404]	likely benign	14	67159411	67159411	Human	1	name
156405413	CV1919325	single nucleotide variant	NM_020806.5(GPHN):c.730-10T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002585640]	uncertain significance	14	66924184	66924184	Human	1	name
156304071	CV1931171	single nucleotide variant	NM_020806.5(GPHN):c.1414-4A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002647793]	likely benign	14	67111857	67111857	Human	1	name
156448935	CV1948245	single nucleotide variant	NM_020806.5(GPHN):c.202-20A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003121042]	likely benign	14	66824454	66824454	Human	1	name
156284004	CV1964502	deletion	NM_020806.5(GPHN):c.828+18del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002577572]	benign	14	66924307	66924307	Human	1	name
156175408	CV2038177	single nucleotide variant	NM_020806.5(GPHN):c.1238-7C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002741994]	likely benign	14	67100849	67100849	Human	1	name
156287214	CV2047024	single nucleotide variant	NM_020806.5(GPHN):c.828+14C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002770612]	likely benign	14	66924306	66924306	Human	1	name
156269586	CV2059768	single nucleotide variant	NM_020806.5(GPHN):c.1837-9T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002806612]	likely benign	14	67159406	67159406	Human	1	name
156126587	CV2072772	single nucleotide variant	NM_020806.5(GPHN):c.1237+2T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002825508]	likely pathogenic	14	67089077	67089077	Human	1	name
156017351	CV2083598	single nucleotide variant	NM_020806.5(GPHN):c.389+10T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002866427]	likely benign	14	66880043	66880043	Human	1	name
156063107	CV2096314	single nucleotide variant	NM_020806.5(GPHN):c.456+11T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002886573]	likely benign	14	66916080	66916080	Human	1	name
156218009	CV2107154	single nucleotide variant	NM_020806.5(GPHN):c.202-18A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002918443]	likely benign	14	66824456	66824456	Human	1	name
156217694	CV2111092	single nucleotide variant	NM_020806.5(GPHN):c.1413+4C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002932329]	uncertain significance	14	67110263	67110263	Human	1	name
156217915	CV2111109	single nucleotide variant	NM_020806.5(GPHN):c.829-12C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002932338]	likely benign	14	66965179	66965179	Human	1	name
156232710	CV2137135	single nucleotide variant	NM_020806.5(GPHN):c.1413+5G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003007801]	uncertain significance	14	67110264	67110264	Human	1	name
156091166	CV2142822	single nucleotide variant	NM_020806.5(GPHN):c.1413+3A>G	GPHN-related disorder [RCV003403999]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002979610]	uncertain significance	14	67110262	67110262	Human	1	name , trait , alternate_id
156350006	CV2146990	single nucleotide variant	NM_020806.5(GPHN):c.144-18T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003030795]	likely benign	14	66776446	66776446	Human	1	name
156190879	CV2165997	single nucleotide variant	NM_020806.5(GPHN):c.1910+6A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003041647]	uncertain significance	14	67159494	67159494	Human	1	name
156162602	CV2191942	single nucleotide variant	NM_020806.5(GPHN):c.202-15A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003040765]	likely benign	14	66824459	66824459	Human	1	name
402476309	CV2856028	single nucleotide variant	NM_020806.5(GPHN):c.730-10T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505787]	uncertain significance	14	66924184	66924184	Human	1	name
402474248	CV2864253	single nucleotide variant	NM_020806.5(GPHN):c.1627-9G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505400]	likely benign	14	67122247	67122247	Human	1	name
402477282	CV2867952	single nucleotide variant	NM_020806.5(GPHN):c.2080-4G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505972]	likely benign	14	67179574	67179574	Human	1	name
402477650	CV2868773	single nucleotide variant	NM_020806.5(GPHN):c.1472+1G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506036]	likely pathogenic	14	67111920	67111920	Human	1	name
402478143	CV2880302	single nucleotide variant	NM_020806.5(GPHN):c.963+18G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506120]	likely benign	14	66965343	66965343	Human	1	name
402480468	CV2893865	single nucleotide variant	NM_020806.5(GPHN):c.964-11T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506442]	likely benign	14	67023622	67023622	Human	1	name
402481101	CV2894214	single nucleotide variant	NM_020806.5(GPHN):c.829-20T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506491]	likely benign	14	66965171	66965171	Human	1	name
402475446	CV2923519	single nucleotide variant	NM_020806.5(GPHN):c.1748+6T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505630]	uncertain significance	14	67122383	67122383	Human	1	name
402476057	CV2933781	single nucleotide variant	NM_020806.5(GPHN):c.1006+2T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505739]	likely pathogenic	14	67023677	67023677	Human	1	name
405113254	CV2937495	single nucleotide variant	NM_020806.5(GPHN):c.1836+9G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616006]	likely benign	14	67143458	67143458	Human	1	name
405114960	CV2965282	single nucleotide variant	NM_020806.5(GPHN):c.828+18T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616276]	likely benign	14	66924310	66924310	Human	1	name
405115030	CV2972457	single nucleotide variant	NM_020806.5(GPHN):c.1749-7T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616288]	likely benign	14	67143355	67143355	Human	1	name
405115011	CV2975515	single nucleotide variant	NM_020806.5(GPHN):c.729+13A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616285]	likely benign	14	66922951	66922951	Human	1	name
405115257	CV2976445	single nucleotide variant	NM_020806.5(GPHN):c.1911-4C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616321]	likely benign	14	67165158	67165158	Human	1	name
405117896	CV3000812	single nucleotide variant	NM_020806.5(GPHN):c.1007-3T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616657]	uncertain significance	14	67058646	67058646	Human	1	name
405119316	CV3007616	single nucleotide variant	NM_020806.5(GPHN):c.1237+6T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616836]	uncertain significance	14	67089081	67089081	Human	1	name
405119225	CV3014096	single nucleotide variant	NM_020806.5(GPHN):c.1473-1G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616823]	likely pathogenic	14	67113017	67113017	Human	1	name
405121934	CV3051030	single nucleotide variant	NM_020806.5(GPHN):c.295-12C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617161]	likely benign	14	66879927	66879927	Human	1	name
405110765	CV3064481	single nucleotide variant	NM_020806.5(GPHN):c.829-20T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615537]	likely benign	14	66965171	66965171	Human	1	name
405112320	CV3071925	single nucleotide variant	NM_020806.5(GPHN):c.390-19A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615763]	likely benign	14	66915984	66915984	Human	1	name
405111710	CV3079148	single nucleotide variant	NM_020806.5(GPHN):c.2079+7C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615686]	likely benign	14	67169043	67169043	Human	1	name
405112008	CV3079570	single nucleotide variant	NM_020806.5(GPHN):c.295-19A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615711]	likely benign	14	66879920	66879920	Human	1	name
405180015	CV3148844	single nucleotide variant	NM_020806.5(GPHN):c.390-19A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003858622]	likely benign	14	66915984	66915984	Human	1	name
597889860	CV3739455	single nucleotide variant	NM_020806.5(GPHN):c.729+17T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005071002]	likely benign	14	66922955	66922955	Human	1	name
597918904	CV3764906	single nucleotide variant	NM_020806.5(GPHN):c.457-18T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005114921]	likely benign	14	66922648	66922648	Human	1	name
597924975	CV3778121	single nucleotide variant	NM_020806.5(GPHN):c.828+15T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005130845]	likely benign	14	66924307	66924307	Human	1	name
597945161	CV3779565	single nucleotide variant	NM_020806.5(GPHN):c.963+19C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005134529]	likely benign	14	66965344	66965344	Human	1	name
597883637	CV3784285	single nucleotide variant	NM_020806.5(GPHN):c.1836+4T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005124573]	uncertain significance	14	67143453	67143453	Human	1	name
597890371	CV3784842	single nucleotide variant	NM_020806.5(GPHN):c.143+15T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005125621]	likely benign	14	66681200	66681200	Human	1	name
597954844	CV3786767	single nucleotide variant	NM_020806.5(GPHN):c.729+18T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005121858]	likely benign	14	66922956	66922956	Human	1	name
597970432	CV3801954	single nucleotide variant	NM_020806.5(GPHN):c.1293+9G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005141746]	likely benign	14	67100920	67100920	Human	1	name
597909946	CV3806523	single nucleotide variant	NM_020806.5(GPHN):c.1911-9T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005154090]	likely benign	14	67165153	67165153	Human	1	name
597840068	CV3825250	single nucleotide variant	NM_020806.5(GPHN):c.456+10C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005171933]	likely benign	14	66916079	66916079	Human	1	name
597976435	CV3829594	single nucleotide variant	NM_020806.5(GPHN):c.1237+7A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005169861]	likely benign	14	67089082	67089082	Human	1	name
597939329	CV3836416	single nucleotide variant	NM_020806.5(GPHN):c.1748+3A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005187437]	uncertain significance	14	67122380	67122380	Human	1	name
597963795	CV3837758	single nucleotide variant	NM_020806.5(GPHN):c.456+19T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005193740]	likely benign	14	66916088	66916088	Human	1	name
597931788	CV3837921	single nucleotide variant	NM_020806.5(GPHN):c.963+17C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005185890]	likely benign	14	66965342	66965342	Human	1	name
597920047	CV3842548	single nucleotide variant	NM_020806.5(GPHN):c.202-19T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005184033]	likely benign	14	66824455	66824455	Human	1	name
597905109	CV3846273	single nucleotide variant	NM_020806.5(GPHN):c.1144+8T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005181896]	likely benign	14	67058794	67058794	Human	1	name
597950062	CV3846846	single nucleotide variant	NM_020806.5(GPHN):c.729+20C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005190017]	likely benign	14	66922958	66922958	Human	1	name
13496049	CV463436	single nucleotide variant	NM_020806.5(GPHN):c.2176+9T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000560081]	benign	14	67179683	67179683	Human	1	name
13473101	CV464018	single nucleotide variant	NM_020806.5(GPHN):c.2080-4G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001486158]	likely benign	14	67179574	67179574	Human	1	name
13470410	CV464336	single nucleotide variant	NM_020806.5(GPHN):c.1414-4A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000546129]	benign	14	67111857	67111857	Human	1	name
13465031	CV464446	single nucleotide variant	NM_020806.5(GPHN):c.963+10G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000542586]\|not provided [RCV001556992]	benign\|likely benign	14	66965335	66965335	Human	1	name
13612092	CV528324	single nucleotide variant	NM_020806.5(GPHN):c.144-10C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642144]	likely benign	14	66776454	66776454	Human	1	name
13627098	CV528339	single nucleotide variant	NM_020806.5(GPHN):c.1911-6T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642146]	likely benign	14	67165156	67165156	Human	1	name
14708412	CV652964	single nucleotide variant	NM_020806.5(GPHN):c.1911-3T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000809570]	uncertain significance	14	67165159	67165159	Human	1	name
15151847	CV778076	single nucleotide variant	NM_020806.5(GPHN):c.1911-7C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000945767]	likely benign	14	67165155	67165155	Human	1	name
15108257	CV779746	single nucleotide variant	NM_020806.5(GPHN):c.1144+9A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001454178]	likely benign	14	67058795	67058795	Human	1	name
26893204	CV851573	single nucleotide variant	NM_020806.5(GPHN):c.1238-3C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001068970]	uncertain significance	14	67100853	67100853	Human	1	name
26918391	CV852011	single nucleotide variant	NM_020806.5(GPHN):c.2079+2T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001057847]	likely pathogenic	14	67169038	67169038	Human	1	name
38477339	CV940310	single nucleotide variant	NM_020806.5(GPHN):c.1473-5T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001205047]	uncertain significance	14	67113013	67113013	Human	1	name
40888387	CV971456	single nucleotide variant	NM_020806.5(GPHN):c.1293+2T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV004799488]	likely pathogenic	14	67100913	67100913	Human	1	name
127282380	CV1102404	single nucleotide variant	NM_020806.5(GPHN):c.1975+15T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001447773]	likely benign	14	67165241	67165241	Human	1	name
127300056	CV1157314	single nucleotide variant	NM_020806.5(GPHN):c.1414-15C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001513955]\|not provided [RCV004715441]	benign	14	67111846	67111846	Human	1	name
127319670	CV1157315	single nucleotide variant	NM_020806.5(GPHN):c.2080-14A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001522233]\|not provided [RCV001615213]	benign	14	67179564	67179564	Human	1	name
150339753	CV1167613	single nucleotide variant	NM_020806.5(GPHN):c.2177-51C>A	not provided [RCV001534545]	benign	14	67180753	67180753	Human		name
8583920	CV118487	single nucleotide variant	NM_020806.4(GPHN):c.294+961G>C	Lung cancer [RCV000099007]	uncertain significance	14	66825527	66825527	Human		name
150425835	CV1184908	single nucleotide variant	NM_020806.5(GPHN):c.2079+82C>T	not provided [RCV001558535]	likely benign	14	67169118	67169118	Human		name
150405599	CV1191596	single nucleotide variant	NM_020806.5(GPHN):c.829-134A>G	not provided [RCV001564354]	likely benign	14	66965057	66965057	Human		name
150421497	CV1198549	single nucleotide variant	NM_020806.5(GPHN):c.143+123C>T	not provided [RCV001578060]	likely benign	14	66681308	66681308	Human		name
150476078	CV1202336	single nucleotide variant	NM_020806.5(GPHN):c.1836+29A>G	not provided [RCV001589580]	likely benign	14	67143478	67143478	Human		name
150500601	CV1213188	single nucleotide variant	NM_020806.5(GPHN):c.456+252C>G	not provided [RCV001594600]	benign	14	66916321	66916321	Human		name
150476985	CV1218561	single nucleotide variant	NM_020806.5(GPHN):c.201+258A>G	not provided [RCV001616188]	benign	14	66776779	66776779	Human		name
150485109	CV1222635	single nucleotide variant	NM_020806.5(GPHN):c.2080-38G>T	not provided [RCV001617638]	benign	14	67179540	67179540	Human		name
150451466	CV1254831	single nucleotide variant	NM_020806.5(GPHN):c.1237+86A>G	not provided [RCV001667890]	benign	14	67089161	67089161	Human		name
150466789	CV1255797	single nucleotide variant	NM_020806.5(GPHN):c.964-300T>C	not provided [RCV001670431]	benign	14	67023333	67023333	Human		name
150506447	CV1257342	single nucleotide variant	NM_020806.5(GPHN):c.829-212A>G	not provided [RCV001678181]	benign	14	66964979	66964979	Human		name
150469096	CV1259600	single nucleotide variant	NM_020806.5(GPHN):c.143+221C>G	not provided [RCV001683901]	benign	14	66681406	66681406	Human		name
150490275	CV1267581	deletion	NM_020806.5(GPHN):c.730-276del	not provided [RCV001687605]	benign	14	66923909	66923909	Human		name
150491442	CV1267776	single nucleotide variant	NM_020806.5(GPHN):c.1472+91A>G	not provided [RCV001687801]	benign	14	67112010	67112010	Human		name
150477252	CV1272019	single nucleotide variant	NM_020806.5(GPHN):c.2079+56A>G	not provided [RCV001696304]	benign	14	67169092	67169092	Human		name
150450740	CV1276506	single nucleotide variant	NM_020806.5(GPHN):c.143+232A>T	not provided [RCV001708295]	benign	14	66681417	66681417	Human		name
151232924	CV1316930	single nucleotide variant	NM_020806.5(GPHN):c.457-109T>C	not provided [RCV001786750]	likely benign	14	66922557	66922557	Human		name
151233195	CV1317001	single nucleotide variant	NM_020806.5(GPHN):c.144-147T>C	not provided [RCV001786821]	likely benign	14	66776317	66776317	Human		name
151233249	CV1317016	single nucleotide variant	NM_020806.5(GPHN):c.1238-31T>C	not provided [RCV001786837]	likely benign	14	67100825	67100825	Human		name
151754184	CV1405540	single nucleotide variant	NM_020806.5(GPHN):c.1414-14G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001927822]	uncertain significance	14	67111847	67111847	Human	1	name
152167403	CV1524674	single nucleotide variant	NM_020806.5(GPHN):c.2080-14A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002142152]	benign	14	67179564	67179564	Human	1	name
152142957	CV1538327	single nucleotide variant	NM_020806.5(GPHN):c.1413+12C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002219618]	likely benign	14	67110271	67110271	Human	1	name
152158778	CV1544273	deletion	NM_020806.5(GPHN):c.1293+16del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002122825]	benign	14	67100926	67100926	Human	1	name
152124875	CV1553963	single nucleotide variant	NM_020806.5(GPHN):c.1749-15T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002098675]	likely benign	14	67143347	67143347	Human	1	name
152047623	CV1569483	single nucleotide variant	NM_020806.5(GPHN):c.1910+17G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002126832]	likely benign	14	67159505	67159505	Human	1	name
152103917	CV1569913	single nucleotide variant	NM_020806.5(GPHN):c.1238-11C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002195896]	likely benign	14	67100845	67100845	Human	1	name
152103785	CV1574674	single nucleotide variant	NM_020806.5(GPHN):c.2176+17T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002095875]	likely benign	14	67179691	67179691	Human	1	name
152163632	CV1575478	single nucleotide variant	NM_020806.5(GPHN):c.1626+17T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002181370]	likely benign	14	67113188	67113188	Human	1	name
152076861	CV1592005	single nucleotide variant	NM_020806.5(GPHN):c.1836+18C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002112223]	likely benign	14	67143467	67143467	Human	1	name
152162370	CV1606305	single nucleotide variant	NM_020806.5(GPHN):c.1749-13T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002181149]	likely benign	14	67143349	67143349	Human	1	name
152025940	CV1627726	single nucleotide variant	NM_020806.5(GPHN):c.1145-16T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002104381]\|not provided [RCV004704775]	likely benign	14	67088967	67088967	Human	1	name
152157827	CV1630633	single nucleotide variant	NM_020806.5(GPHN):c.1627-20G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002122675]\|not provided [RCV004716869]	benign	14	67122236	67122236	Human	1	name
152130527	CV1630977	single nucleotide variant	NM_020806.5(GPHN):c.1145-20C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002119028]	likely benign	14	67088963	67088963	Human	1	name
152142454	CV1636419	single nucleotide variant	NM_020806.5(GPHN):c.1836+18C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002120560]	likely benign	14	67143467	67143467	Human	1	name
152062302	CV1638570	single nucleotide variant	NM_020806.5(GPHN):c.1975+19T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002073821]	likely benign	14	67165245	67165245	Human	1	name
152064383	CV1645001	single nucleotide variant	NM_020806.5(GPHN):c.1748+19T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002147204]	likely benign	14	67122396	67122396	Human	1	name
152093129	CV1648574	single nucleotide variant	NM_020806.5(GPHN):c.1144+19A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002077982]	likely benign	14	67058805	67058805	Human	1	name
152090430	CV1654837	single nucleotide variant	NM_020806.5(GPHN):c.1911-18A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002212648]	likely benign	14	67165144	67165144	Human	1	name
152144277	CV1658107	single nucleotide variant	NM_020806.5(GPHN):c.1748+15T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002219794]	likely benign	14	67122392	67122392	Human	1	name
152137311	CV1664985	single nucleotide variant	NM_020806.5(GPHN):c.1836+19G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002119880]	likely benign	14	67143468	67143468	Human	1	name
152124555	CV1665692	single nucleotide variant	NM_020806.5(GPHN):c.1413+13C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002198505]	likely benign	14	67110272	67110272	Human	1	name
156052684	CV1878697	single nucleotide variant	NM_020806.5(GPHN):c.1473-14G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003053057]	likely benign	14	67113004	67113004	Human	1	name
156179825	CV1888289	single nucleotide variant	NM_020806.5(GPHN):c.1627-13T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003083519]	likely benign	14	67122243	67122243	Human	1	name
156059379	CV1930907	single nucleotide variant	NM_020806.5(GPHN):c.1238-14G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002638230]	likely benign	14	67100842	67100842	Human	1	name
156348885	CV1989292	single nucleotide variant	NM_020806.5(GPHN):c.1748+12A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002631834]	likely benign	14	67122389	67122389	Human	1	name
156392034	CV2005761	single nucleotide variant	NM_020806.5(GPHN):c.1626+13A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002680861]	likely benign	14	67113184	67113184	Human	1	name
156371604	CV2007807	single nucleotide variant	NM_020806.5(GPHN):c.2176+14A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002676944]	likely benign	14	67179688	67179688	Human	1	name
155948477	CV2087807	single nucleotide variant	NM_020806.5(GPHN):c.1910+11C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002880364]	likely benign	14	67159499	67159499	Human	1	name
156239380	CV2115827	single nucleotide variant	NM_020806.5(GPHN):c.2177-19T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002919240]	likely benign	14	67180785	67180785	Human	1	name
156365705	CV2130612	single nucleotide variant	NM_020806.5(GPHN):c.2079+16G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002967287]	likely benign	14	67169052	67169052	Human	1	name
156027091	CV2131385	single nucleotide variant	NM_020806.5(GPHN):c.2080-13C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002976438]	likely benign	14	67179565	67179565	Human	1	name
156321998	CV2134197	single nucleotide variant	NM_020806.5(GPHN):c.1238-14G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002963270]	likely benign	14	67100842	67100842	Human	1	name
155906836	CV2148201	single nucleotide variant	NM_020806.5(GPHN):c.1473-17T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003011973]	likely benign	14	67113001	67113001	Human	1	name
156080410	CV2171250	single nucleotide variant	NM_020806.5(GPHN):c.2079+13A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003020331]	likely benign	14	67169049	67169049	Human	1	name
156394409	CV2181811	single nucleotide variant	NM_020806.5(GPHN):c.1748+14G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003051696]	likely benign	14	67122391	67122391	Human	1	name
402474235	CV2864250	single nucleotide variant	NM_020806.5(GPHN):c.1627-15T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505398]	likely benign	14	67122241	67122241	Human	1	name
402474650	CV2864927	single nucleotide variant	NM_020806.5(GPHN):c.1836+12A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505479]	likely benign	14	67143461	67143461	Human	1	name
402477397	CV2878801	single nucleotide variant	NM_020806.5(GPHN):c.1237+20T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505990]	likely benign	14	67089095	67089095	Human	1	name
402478681	CV2884735	single nucleotide variant	NM_020806.5(GPHN):c.1007-15T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506201]	likely benign	14	67058634	67058634	Human	1	name
402479850	CV2892676	single nucleotide variant	NM_020806.5(GPHN):c.1749-17T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506341]	likely benign	14	67143345	67143345	Human	1	name
402482873	CV2895912	single nucleotide variant	NM_020806.5(GPHN):c.1006+14C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506677]	likely benign	14	67023689	67023689	Human	1	name
402481588	CV2904764	single nucleotide variant	NM_020806.5(GPHN):c.1472+14A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506555]	likely benign	14	67111933	67111933	Human	1	name
405117097	CV2991579	single nucleotide variant	NM_020806.5(GPHN):c.1472+19G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616556]	likely benign	14	67111938	67111938	Human	1	name
405117512	CV2992756	single nucleotide variant	NM_020806.5(GPHN):c.1238-12T>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616610]	uncertain significance	14	67100844	67100844	Human	1	name
405119308	CV3007463	single nucleotide variant	NM_020806.5(GPHN):c.1749-19T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616835]	likely benign	14	67143343	67143343	Human	1	name
405122188	CV3045068	single nucleotide variant	NM_020806.5(GPHN):c.1238-18C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617193]	likely benign	14	67100838	67100838	Human	1	name
405121644	CV3050262	single nucleotide variant	NM_020806.5(GPHN):c.2176+19C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617125]	likely benign	14	67179693	67179693	Human	1	name
405112086	CV3074118	single nucleotide variant	NM_020806.5(GPHN):c.1748+17A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615725]	likely benign	14	67122394	67122394	Human	1	name
405239013	CV3165810	single nucleotide variant	NM_020806.5(GPHN):c.1472+18A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003866822]	likely benign	14	67111937	67111937	Human	1	name
402505685	CV3181585	single nucleotide variant	NM_020806.5(GPHN):c.2080-17T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003878419]	likely benign	14	67179561	67179561	Human	1	name
597849300	CV3761661	single nucleotide variant	NM_020806.5(GPHN):c.1237+13G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005087757]	likely benign	14	67089088	67089088	Human	1	name
597944620	CV3776644	single nucleotide variant	NM_020806.5(GPHN):c.1836+15G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005119500]	likely benign	14	67143464	67143464	Human	1	name
597889034	CV3788039	single nucleotide variant	NM_020806.5(GPHN):c.1472+16A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005125397]	likely benign	14	67111935	67111935	Human	1	name
597888155	CV3804434	single nucleotide variant	NM_020806.5(GPHN):c.1238-19G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005150885]	likely benign	14	67100837	67100837	Human	1	name
597836938	CV3828491	single nucleotide variant	NM_020806.5(GPHN):c.1748+20C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005171384]	likely benign	14	67122397	67122397	Human	1	name
597974243	CV3831189	single nucleotide variant	NM_020806.5(GPHN):c.1294-12C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005168327]	likely benign	14	67110128	67110128	Human	1	name
597929999	CV3837498	single nucleotide variant	NM_020806.5(GPHN):c.2176+19C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005185656]	likely benign	14	67179693	67179693	Human	1	name
597889711	CV3839631	single nucleotide variant	NM_020806.5(GPHN):c.1006+12A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005179523]	likely benign	14	67023687	67023687	Human	1	name
597936361	CV3852146	single nucleotide variant	NM_020806.5(GPHN):c.1293+17T>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005186743]	likely benign	14	67100928	67100928	Human	1	name
597968033	CV3853341	single nucleotide variant	NM_020806.5(GPHN):c.1748+11G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005194983]	likely benign	14	67122388	67122388	Human	1	name
597882242	CV3857560	single nucleotide variant	NM_020806.5(GPHN):c.1473-14G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005199180]	likely benign	14	67113004	67113004	Human	1	name
15144800	CV787976	single nucleotide variant	NM_020806.5(GPHN):c.1414-10G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000983556]	likely benign	14	67111851	67111851	Human	1	name
150336927	CV1172610	single nucleotide variant	NM_020806.5(GPHN):c.1748+333G>A	not provided [RCV001541283]	benign	14	67122710	67122710	Human		name
8583919	CV118486	single nucleotide variant	NM_020806.4(GPHN):c.64+21836G>T	Lung cancer [RCV000099006]	uncertain significance	14	66530427	66530427	Human		name
150416162	CV1198550	single nucleotide variant	NM_020806.5(GPHN):c.2177-139A>G	not provided [RCV001575708]	likely benign	14	67180665	67180665	Human		name
150457210	CV1202592	single nucleotide variant	NM_020806.5(GPHN):c.1144+187A>G	not provided [RCV001586245]	likely benign	14	67058973	67058973	Human		name
150441025	CV1204490	single nucleotide variant	NM_020806.5(GPHN):c.1237+250G>A	not provided [RCV001583596]	likely benign	14	67089325	67089325	Human		name
150498708	CV1208965	duplication	NM_020806.5(GPHN):c.1911-232dup	not provided [RCV001594182]	likely benign	14	67164917	67164918	Human		name
150472145	CV1209679	single nucleotide variant	NM_020806.5(GPHN):c.1749-152G>T	not provided [RCV001588790]	likely benign	14	67143210	67143210	Human		name
150476668	CV1218512	duplication	NM_020806.5(GPHN):c.1293+290dup	not provided [RCV001616139]	benign	14	67101191	67101192	Human		name
150457592	CV1219636	single nucleotide variant	NM_020806.5(GPHN):c.1837-220C>T	not provided [RCV001612852]	benign	14	67159195	67159195	Human		name
150435344	CV1244392	single nucleotide variant	NM_020806.5(GPHN):c.1626+191A>G	not provided [RCV001665383]	likely benign	14	67113362	67113362	Human		name
150508289	CV1244795	single nucleotide variant	NM_020806.5(GPHN):c.1144+193T>C	not provided [RCV001659044]	benign	14	67058979	67058979	Human		name
150509679	CV1247378	single nucleotide variant	NM_020806.5(GPHN):c.1472+219T>A	not provided [RCV001659405]	benign	14	67112138	67112138	Human		name
150476267	CV1251835	single nucleotide variant	NM_020806.5(GPHN):c.1911-206A>G	not provided [RCV001672034]	benign	14	67164956	67164956	Human		name
150494982	CV1267445	single nucleotide variant	NM_020806.5(GPHN):c.1473-269T>G	not provided [RCV001688473]	benign	14	67112749	67112749	Human		name
150458729	CV1269682	deletion	NM_020806.5(GPHN):c.1144+243del	not provided [RCV001693222]	benign	14	67059015	67059015	Human		name
150497610	CV1271370	single nucleotide variant	NM_020806.5(GPHN):c.1237+218T>C	not provided [RCV001689060]	benign	14	67089293	67089293	Human		name
150490504	CV1279770	single nucleotide variant	NM_020806.5(GPHN):c.2176+109T>C	not provided [RCV001716485]	benign	14	67179783	67179783	Human		name
150536492	CV1293109	deletion	NM_020806.5(GPHN):c.1910+118del	not provided [RCV001762895]	benign	14	67159598	67159598	Human		name
151233102	CV1316976	single nucleotide variant	NM_020806.5(GPHN):c.1627-105G>A	not provided [RCV001786796]	likely benign	14	67122151	67122151	Human		name
151233487	CV1317097	single nucleotide variant	NM_020806.5(GPHN):c.1294-187C>T	not provided [RCV001786918]	likely benign	14	67109953	67109953	Human		name
155267656	CV1705056	single nucleotide variant	NM_020806.5(GPHN):c.1413+211G>T	not provided [RCV002285661]	likely benign	14	67110470	67110470	Human		name
8583921	CV118488	single nucleotide variant	NM_020806.4(GPHN):c.1145-6511A>G	Lung cancer [RCV000099008]	uncertain significance	14	67082472	67082472	Human		name
8559033	CV21011	deletion	NM_020806.4(GPHN):c.65-?_201+?del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000006336]	pathogenic	14	66681106	66776522	Human	1	name
150442191	CV1265897	deletion	NM_020806.5(GPHN):c.65-98_65-97del	not provided [RCV001690622]	benign	14	66681000	66681001	Human		name
151884573	CV1452694	deletion	NM_020806.5(GPHN):c.828+8_828+9del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002037579]	likely benign	14	66924300	66924301	Human	1	name
152090060	CV1654776	single nucleotide variant	NM_020806.5(GPHN):c.9C>T (p.Thr3=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002212602]	likely benign	14	66508536	66508536	Human	1	name
156051237	CV2165233	deletion	NM_020806.5(GPHN):c.589_729+150del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003019403]	likely pathogenic	14	66922796	66923086	Human	1	name
402473995	CV2863573	single nucleotide variant	NM_020806.5(GPHN):c.6G>T (p.Ala2=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505355]	likely benign	14	66508533	66508533	Human	1	name
402475227	CV2922964	deletion	NM_020806.5(GPHN):c.1473-7_1489del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505588]	likely pathogenic	14	67113010	67113033	Human	1	name
156289186	CV1897258	single nucleotide variant	NM_020806.5(GPHN):c.12G>A (p.Glu4=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002598680]	likely benign	14	66508539	66508539	Human	1	name
152155532	CV1520321	single nucleotide variant	NM_020806.5(GPHN):c.72T>C (p.Asp24=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002140116]	likely benign	14	66681114	66681114	Human	1	name
152146193	CV1582771	duplication	NM_020806.5(GPHN):c.1911-9_1911-8dup	GPHN-related disorder [RCV003951324]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002201273]	benign\|likely benign	14	67165147	67165148	Human	1	name , trait , alternate_id
156207349	CV1959379	single nucleotide variant	NM_020806.5(GPHN):c.42A>G (p.Gln14=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002575012]	likely benign	14	66508569	66508569	Human	1	name
156126443	CV1969445	microsatellite	NM_020806.5(GPHN):c.1238-3_1238-2del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002593328]	uncertain significance	14	67100851	67100852	Human		name
155971182	CV2030847	deletion	NM_020806.5(GPHN):c.295-14_295-10del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002731630]	likely benign	14	66879925	66879929	Human	1	name
156288588	CV2058301	single nucleotide variant	NM_020806.5(GPHN):c.60T>A (p.Leu20=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002833104]	likely benign	14	66508587	66508587	Human	1	name
156351475	CV2069661	single nucleotide variant	NM_020806.5(GPHN):c.57C>A (p.Val19=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002811820]	likely benign	14	66508584	66508584	Human	1	name
156035475	CV2089370	deletion	NM_020806.5(GPHN):c.2080-6_2080-5del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002867229]	likely benign	14	67179571	67179572	Human	1	name
405016583	CV3139114	deletion	NM_020806.5(GPHN):c.963+18_963+47del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003829451]	likely benign	14	66965341	66965370	Human	1	name
597894467	CV3785594	deletion	NM_020806.5(GPHN):c.730-19_730-18del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005126180]	uncertain significance	14	66924174	66924175	Human	1	name
127294707	CV1123839	single nucleotide variant	NM_020806.5(GPHN):c.156T>C (p.Thr52=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001459526]	likely benign	14	66776476	66776476	Human	1	name
151821698	CV1453638	single nucleotide variant	NM_020806.5(GPHN):c.25A>G (p.Thr9Ala)	Inborn genetic diseases [RCV004040627]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001879274]	uncertain significance	14	66508552	66508552	Human	2	name
152168084	CV1645023	single nucleotide variant	NM_020806.5(GPHN):c.117C>G (p.Leu39=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002142326]	likely benign	14	66681159	66681159	Human	1	name
152090213	CV1654798	single nucleotide variant	NM_020806.5(GPHN):c.225T>C (p.Asp75=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002212621]	likely benign	14	66824497	66824497	Human	1	name
156446644	CV1947990	single nucleotide variant	NM_020806.5(GPHN):c.270T>C (p.Phe90=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003118155]	likely benign	14	66824542	66824542	Human	1	name
156023479	CV2077853	single nucleotide variant	NM_020806.5(GPHN):c.255T>A (p.Thr85=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002866719]	likely benign	14	66824527	66824527	Human	1	name
156324227	CV2108418	single nucleotide variant	NM_020806.5(GPHN):c.20T>C (p.Ile7Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002937970]	uncertain significance	14	66508547	66508547	Human	1	name
156263458	CV2189041	single nucleotide variant	NM_020806.5(GPHN):c.26C>A (p.Thr9Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003044199]	uncertain significance	14	66508553	66508553	Human	1	name
402478287	CV2877129	single nucleotide variant	NM_020806.5(GPHN):c.208C>T (p.Leu70=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506143]	likely benign	14	66824480	66824480	Human	1	name
402471941	CV2908869	single nucleotide variant	NM_020806.5(GPHN):c.114T>C (p.Asn38=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504789]	likely benign	14	66681156	66681156	Human	1	name
405116258	CV2989585	single nucleotide variant	NM_020806.5(GPHN):c.159A>C (p.Ile53=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616449]	likely benign	14	66776479	66776479	Human	1	name
405117581	CV2999961	single nucleotide variant	NM_020806.5(GPHN):c.20T>G (p.Ile7Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616619]	uncertain significance	14	66508547	66508547	Human	1	name
13494445	CV464000	single nucleotide variant	NM_020806.5(GPHN):c.26C>G (p.Thr9Ser)	GPHN-related disorder [RCV003925653]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000610229]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001082363]\|not provided [RCV000536404]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	66508553	66508553	Human	2	name , trait , alternate_id
13612095	CV528329	single nucleotide variant	NM_020806.5(GPHN):c.165A>G (p.Ala55=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642145]	likely benign	14	66776485	66776485	Human	1	name
127278583	CV1080601	single nucleotide variant	NM_020806.5(GPHN):c.357A>T (p.Ser119=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001408542]	likely benign	14	66880001	66880001	Human	1	name
127263563	CV1080602	single nucleotide variant	NM_020806.5(GPHN):c.516C>T (p.Ala172=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001403037]	likely benign	14	66922725	66922725	Human	1	name
127238381	CV1080603	single nucleotide variant	NM_020806.5(GPHN):c.603C>G (p.Pro201=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001397313]	likely benign	14	66922812	66922812	Human	1	name
127279519	CV1102397	single nucleotide variant	NM_020806.5(GPHN):c.582C>T (p.Ser194=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001445846]	likely benign	14	66922791	66922791	Human	1	name
127334027	CV1123840	single nucleotide variant	NM_020806.5(GPHN):c.315A>G (p.Glu105=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001473325]	likely benign	14	66879959	66879959	Human	1	name
127305621	CV1123841	single nucleotide variant	NM_020806.5(GPHN):c.484C>T (p.Leu162=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001455296]	likely benign	14	66922693	66922693	Human	1	name
127295884	CV1123842	single nucleotide variant	NM_020806.5(GPHN):c.723T>G (p.Ala241=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001459834]	likely benign	14	66922932	66922932	Human	1	name
127290091	CV1123843	single nucleotide variant	NM_020806.5(GPHN):c.771C>T (p.His257=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001458342]	likely benign	14	66924235	66924235	Human	1	name
127322973	CV1144701	single nucleotide variant	NM_020806.5(GPHN):c.669T>C (p.Gly223=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001485114]	likely benign	14	66922878	66922878	Human	1	name
127285956	CV1144702	single nucleotide variant	NM_020806.5(GPHN):c.909G>A (p.Ser303=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001493904]	likely benign	14	66965271	66965271	Human	1	name
151862437	CV1338698	single nucleotide variant	NM_020806.5(GPHN):c.49G>A (p.Val17Ile)	Inborn genetic diseases [RCV003170132]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001997304]	likely benign\|uncertain significance	14	66508576	66508576	Human	2	name
152133448	CV1544960	single nucleotide variant	NM_020806.5(GPHN):c.978C>T (p.Cys326=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002177109]	likely benign	14	67023647	67023647	Human	1	name
152121643	CV1570285	single nucleotide variant	NM_020806.5(GPHN):c.813T>C (p.His271=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002216860]	likely benign	14	66924277	66924277	Human	1	name
152103215	CV1571848	deletion	NM_020806.5(GPHN):c.1749-16_1749-12del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002173371]	likely benign	14	67143346	67143350	Human	1	name
152170516	CV1578151	single nucleotide variant	NM_020806.5(GPHN):c.564C>G (p.Ser188=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002183178]\|not provided [RCV003408135]	likely benign	14	66922773	66922773	Human	1	name
152068339	CV1592439	single nucleotide variant	NM_020806.5(GPHN):c.936C>T (p.Leu312=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002168968]	likely benign	14	66965298	66965298	Human	1	name
152093443	CV1598712	single nucleotide variant	NM_020806.5(GPHN):c.684A>G (p.Glu228=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002172136]	likely benign	14	66922893	66922893	Human	1	name
152025905	CV1627704	single nucleotide variant	NM_020806.5(GPHN):c.582C>G (p.Ser194=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002104369]	likely benign	14	66922791	66922791	Human	1	name
152071214	CV1628595	single nucleotide variant	NM_020806.5(GPHN):c.537G>A (p.Val179=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002169314]	likely benign	14	66922746	66922746	Human	1	name
152054351	CV1633037	single nucleotide variant	NM_020806.5(GPHN):c.337C>T (p.Leu113=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002127592]	likely benign	14	66879981	66879981	Human	1	name
156022194	CV1882432	single nucleotide variant	NM_020806.5(GPHN):c.768A>G (p.Ala256=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003077677]	likely benign	14	66924232	66924232	Human	1	name
156352969	CV1893445	single nucleotide variant	NM_020806.5(GPHN):c.963A>G (p.Lys321=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003091124]	uncertain significance	14	66965325	66965325	Human	1	name
156364882	CV1897269	single nucleotide variant	NM_020806.5(GPHN):c.837C>T (p.Asp279=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002581991]	likely benign	14	66965199	66965199	Human	1	name
156380580	CV1899758	single nucleotide variant	NM_020806.5(GPHN):c.468A>G (p.Gln156=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003093240]	likely benign	14	66922677	66922677	Human	1	name
156357693	CV1913980	single nucleotide variant	NM_020806.5(GPHN):c.975G>A (p.Arg325=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002632454]	likely benign	14	67023644	67023644	Human	1	name
156296923	CV1923337	single nucleotide variant	NM_020806.5(GPHN):c.91G>A (p.Ala31Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002647449]	uncertain significance	14	66681133	66681133	Human	1	name
156356392	CV2001583	single nucleotide variant	NM_020806.5(GPHN):c.597C>T (p.Thr199=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002675954]	likely benign	14	66922806	66922806	Human	1	name
155919263	CV2027266	single nucleotide variant	NM_020806.5(GPHN):c.585T>G (p.Pro195=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002750628]	likely benign	14	66922794	66922794	Human	1	name
155996392	CV2045273	single nucleotide variant	NM_020806.5(GPHN):c.82A>G (p.Arg28Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002755983]	uncertain significance	14	66681124	66681124	Human	1	name
155995659	CV2060212	single nucleotide variant	NM_020806.5(GPHN):c.42A>C (p.Gln14His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002819410]	uncertain significance	14	66508569	66508569	Human	1	name
155910159	CV2069324	single nucleotide variant	NM_020806.5(GPHN):c.423A>C (p.Ile141=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002837647]	likely benign	14	66916036	66916036	Human	1	name
155981602	CV2070146	microsatellite	NM_020806.5(GPHN):c.1911-15_1911-14del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002842548]	likely benign	14	67165145	67165146	Human		name
155979236	CV2093933	single nucleotide variant	NM_020806.5(GPHN):c.576T>C (p.Pro192=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002881849]	likely benign	14	66922785	66922785	Human	1	name
156129171	CV2100773	single nucleotide variant	NM_020806.5(GPHN):c.486A>C (p.Leu162=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002889875]	likely benign	14	66922695	66922695	Human	1	name
8596986	CV21012	single nucleotide variant	NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)	Hyperekplexia 1 [RCV000031964]\|Hyperekplexia 1 [RCV002496282]\|Hyperekplexia [RCV000006337]\|Inborn genetic diseases [RCV002512829]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000697829]\|not provided [RCV003480022]	pathogenic\|uncertain significance	14	66508555	66508555	Human	5	name
156038588	CV2121225	single nucleotide variant	NM_020806.5(GPHN):c.645G>A (p.Glu215=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002923820]	likely benign	14	66922854	66922854	Human	1	name
156236468	CV2155753	deletion	NM_020806.5(GPHN):c.1749-18_1749-13del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003007940]	likely benign	14	67143339	67143344	Human	1	name
155949866	CV2158857	single nucleotide variant	NM_020806.5(GPHN):c.495C>T (p.Ala165=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003014789]	likely benign	14	66922704	66922704	Human	1	name
402474138	CV2853974	single nucleotide variant	NM_020806.5(GPHN):c.83G>A (p.Arg28Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505381]	uncertain significance	14	66681125	66681125	Human	1	name
402477951	CV2876664	single nucleotide variant	NM_020806.5(GPHN):c.867C>G (p.Leu289=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506090]	likely benign	14	66965229	66965229	Human	1	name
402476698	CV2877334	single nucleotide variant	NM_020806.5(GPHN):c.903A>G (p.Ser301=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505863]	likely benign	14	66965265	66965265	Human	1	name
402480737	CV2893343	single nucleotide variant	NM_020806.5(GPHN):c.666T>C (p.Ser222=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506399]	likely benign	14	66922875	66922875	Human	1	name
402475534	CV2933047	single nucleotide variant	NM_020806.5(GPHN):c.654G>A (p.Glu218=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505645]	likely benign	14	66922863	66922863	Human	1	name
405115144	CV2976146	single nucleotide variant	NM_020806.5(GPHN):c.396A>G (p.Val132=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616305]	likely benign	14	66916009	66916009	Human	1	name
405115555	CV2977491	deletion	NM_020806.5(GPHN):c.1837-16_1837-11del	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616360]	uncertain significance	14	67159396	67159401	Human	1	name
405119039	CV3016820	single nucleotide variant	NM_020806.5(GPHN):c.429C>T (p.Asn143=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616800]	likely benign	14	66916042	66916042	Human	1	name
405120889	CV3035374	single nucleotide variant	NM_020806.5(GPHN):c.732G>A (p.Lys244=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617035]	uncertain significance	14	66924196	66924196	Human	1	name
405112112	CV3074404	single nucleotide variant	NM_020806.5(GPHN):c.501C>T (p.Asp167=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615729]	likely benign	14	66922710	66922710	Human	1	name
405112422	CV3080614	single nucleotide variant	NM_020806.5(GPHN):c.390G>A (p.Arg130=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615780]	uncertain significance	14	66916003	66916003	Human	1	name
405093089	CV3118867	single nucleotide variant	NM_020806.5(GPHN):c.696A>G (p.Ser232=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003811318]	likely benign	14	66922905	66922905	Human	1	name
405025524	CV3133067	single nucleotide variant	NM_020806.5(GPHN):c.417G>A (p.Thr139=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003830214]	likely benign	14	66916030	66916030	Human	1	name
407457269	CV3416092	single nucleotide variant	NM_020806.5(GPHN):c.867C>T (p.Leu289=)	not provided [RCV004598970]	uncertain significance	14	66965229	66965229	Human		name
597949999	CV3768561	single nucleotide variant	NM_020806.5(GPHN):c.789T>A (p.Pro263=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005120747]	likely benign	14	66924253	66924253	Human	1	name
597926361	CV3778484	single nucleotide variant	NM_020806.5(GPHN):c.411G>A (p.Gly137=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005131007]	likely benign	14	66916024	66916024	Human	1	name
597966150	CV3793922	duplication	NM_020806.5(GPHN):c.158dup (p.Ser54fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005140304]	pathogenic	14	66776477	66776478	Human	1	name
597961444	CV3840730	single nucleotide variant	NM_020806.5(GPHN):c.486A>G (p.Leu162=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005193023]	likely benign	14	66922695	66922695	Human	1	name
597886666	CV3842375	single nucleotide variant	NM_020806.5(GPHN):c.534G>A (p.Glu178=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005179010]	likely benign	14	66922743	66922743	Human	1	name
597903966	CV3846070	single nucleotide variant	NM_020806.5(GPHN):c.47G>A (p.Arg16His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005181692]	uncertain significance	14	66508574	66508574	Human	1	name
597874217	CV3846341	single nucleotide variant	NM_020806.5(GPHN):c.588T>G (p.Pro196=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005177224]	likely benign	14	66922797	66922797	Human	1	name
597934662	CV3858821	duplication	NM_020806.5(GPHN):c.1975+17_1975+21dup	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005207291]	likely benign	14	67165242	67165243	Human	1	name
13495389	CV464017	single nucleotide variant	NM_020806.5(GPHN):c.633A>G (p.Gln211=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000537103]\|not provided [RCV003403294]	likely benign	14	66922842	66922842	Human	1	name
13471958	CV464443	single nucleotide variant	NM_020806.5(GPHN):c.327A>G (p.Pro109=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000524675]	likely benign	14	66879971	66879971	Human	1	name
13612086	CV528323	single nucleotide variant	NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	Inborn genetic diseases [RCV003338709]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642141]\|not provided [RCV004808819]	conflicting interpretations of pathogenicity\|uncertain significance	14	66681128	66681128	Human	2	name
15182683	CV725762	single nucleotide variant	NM_020806.5(GPHN):c.369A>G (p.Thr123=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000886049]	likely benign	14	66880013	66880013	Human	1	name
15201600	CV769872	single nucleotide variant	NM_020806.5(GPHN):c.357A>G (p.Ser119=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001422066]	likely benign	14	66880001	66880001	Human	1	name
15103432	CV784745	single nucleotide variant	NM_020806.5(GPHN):c.339G>C (p.Leu113=)	not provided [RCV000976016]	likely benign	14	66879983	66879983	Human		name
15111110	CV784746	single nucleotide variant	NM_020806.5(GPHN):c.651A>G (p.Glu217=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000977572]	likely benign	14	66922860	66922860	Human	1	name
38493305	CV927147	single nucleotide variant	NM_020806.5(GPHN):c.68G>C (p.Ser23Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001223914]	uncertain significance	14	66681110	66681110	Human	1	name
38485625	CV936685	single nucleotide variant	NM_020806.5(GPHN):c.777A>G (p.Glu259=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001208557]	likely benign\|uncertain significance	14	66924241	66924241	Human	1	name
126741833	CV1017821	single nucleotide variant	NM_020806.5(GPHN):c.175G>A (p.Val59Ile)	Hyperekplexia 1 [RCV001329795]	uncertain significance	14	66776495	66776495	Human	1	name
126736405	CV1021228	single nucleotide variant	NM_020806.5(GPHN):c.163G>T (p.Ala55Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001335075]	uncertain significance	14	66776483	66776483	Human	1	name
126751208	CV1031683	single nucleotide variant	NM_020806.5(GPHN):c.198C>G (p.Ile66Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001338195]\|not provided [RCV003442856]	uncertain significance	14	66776518	66776518	Human	1	name
126916515	CV1048640	single nucleotide variant	NM_020806.5(GPHN):c.212T>A (p.Ile71Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001360624]	uncertain significance	14	66824484	66824484	Human	1	name
126913752	CV1048641	single nucleotide variant	NM_020806.5(GPHN):c.262A>C (p.Thr88Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001370225]	uncertain significance	14	66824534	66824534	Human	1	name
127264116	CV1080605	single nucleotide variant	NM_020806.5(GPHN):c.1389C>A (p.Thr463=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001403162]	likely benign	14	67110235	67110235	Human	1	name
127265196	CV1080606	single nucleotide variant	NM_020806.5(GPHN):c.1404A>G (p.Glu468=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001403512]	likely benign	14	67110250	67110250	Human	1	name
127257422	CV1080607	single nucleotide variant	NM_020806.5(GPHN):c.1842T>C (p.Tyr614=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001401458]	likely benign	14	67159420	67159420	Human	1	name
127230302	CV1080608	single nucleotide variant	NM_020806.5(GPHN):c.1905A>G (p.Lys635=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001412433]	likely benign	14	67159483	67159483	Human	1	name
127278149	CV1102398	single nucleotide variant	NM_020806.5(GPHN):c.1113G>A (p.Pro371=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001444845]	likely benign	14	67058755	67058755	Human	1	name
127241876	CV1102399	single nucleotide variant	NM_020806.5(GPHN):c.1140C>T (p.Tyr380=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001434506]	likely benign	14	67058782	67058782	Human	1	name
127281053	CV1102401	single nucleotide variant	NM_020806.5(GPHN):c.1441C>T (p.Leu481=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001446868]	likely benign	14	67111888	67111888	Human	1	name
127265719	CV1102403	single nucleotide variant	NM_020806.5(GPHN):c.1488C>T (p.Asp496=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001429174]	likely benign	14	67113033	67113033	Human	1	name
127330526	CV1123844	single nucleotide variant	NM_020806.5(GPHN):c.1281A>G (p.Gln427=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001470910]	likely benign	14	67100899	67100899	Human	1	name
127310644	CV1123845	single nucleotide variant	NM_020806.5(GPHN):c.1305A>G (p.Thr435=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001456662]	likely benign	14	67110151	67110151	Human	1	name
127289301	CV1123846	single nucleotide variant	NM_020806.5(GPHN):c.1620G>A (p.Gly540=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001450857]	likely benign	14	67113165	67113165	Human	1	name
127328001	CV1144704	single nucleotide variant	NM_020806.5(GPHN):c.1845C>T (p.Leu615=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001506877]	likely benign	14	67159423	67159423	Human	1	name
127293509	CV1144705	single nucleotide variant	NM_020806.5(GPHN):c.1896T>G (p.Val632=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001496801]	likely benign	14	67159474	67159474	Human	1	name
127316415	CV1144707	single nucleotide variant	NM_020806.5(GPHN):c.2022T>C (p.Pro674=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001482819]\|not provided [RCV003405683]	likely benign	14	67168979	67168979	Human	1	name
151881783	CV1339891	single nucleotide variant	NM_020806.5(GPHN):c.2205C>T (p.Ser735=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001999699]	likely benign\|uncertain significance	14	67180832	67180832	Human	1	name
151731656	CV1355498	single nucleotide variant	NM_020806.5(GPHN):c.188T>C (p.Ile63Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001984268]	uncertain significance	14	66776508	66776508	Human	1	name
151814989	CV1360675	single nucleotide variant	NM_020806.5(GPHN):c.111A>G (p.Ile37Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001878649]	uncertain significance	14	66681153	66681153	Human	1	name
151861336	CV1386220	single nucleotide variant	NM_020806.5(GPHN):c.136C>T (p.Pro46Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001905318]	uncertain significance	14	66681178	66681178	Human	1	name
151769745	CV1424637	single nucleotide variant	NM_020806.5(GPHN):c.238A>C (p.Asn80His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001874330]	uncertain significance	14	66824510	66824510	Human	1	name
151749253	CV1430305	single nucleotide variant	NM_020806.5(GPHN):c.158T>C (p.Ile53Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002006689]	uncertain significance	14	66776478	66776478	Human	1	name
151764599	CV1468280	single nucleotide variant	NM_020806.5(GPHN):c.277C>T (p.Arg93Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001949542]	pathogenic	14	66824549	66824549	Human	1	name
151785188	CV1481526	single nucleotide variant	NM_020806.5(GPHN):c.1479C>T (p.Ile493=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001951464]	likely benign	14	67113024	67113024	Human	1	name
151719669	CV1505904	single nucleotide variant	NM_020806.5(GPHN):c.1977G>T (p.Gly659=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002039886]	likely benign\|uncertain significance	14	67168934	67168934	Human	1	name
152151647	CV1530467	single nucleotide variant	NM_020806.5(GPHN):c.1584T>G (p.Val528=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002102318]	likely benign	14	67113129	67113129	Human	1	name
152127831	CV1534121	single nucleotide variant	NM_020806.5(GPHN):c.1617A>C (p.Thr539=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002136551]	likely benign	14	67113162	67113162	Human	1	name
152142732	CV1538286	single nucleotide variant	NM_020806.5(GPHN):c.2235A>G (p.Leu745=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002219587]	likely benign	14	67180862	67180862	Human	1	name
152171583	CV1544261	single nucleotide variant	NM_020806.5(GPHN):c.1986A>G (p.Val662=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002162164]	likely benign	14	67168943	67168943	Human	1	name
152125813	CV1548676	single nucleotide variant	NM_020806.5(GPHN):c.1912T>C (p.Leu638=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002082200]	likely benign	14	67165163	67165163	Human	1	name
152070939	CV1551977	single nucleotide variant	NM_020806.5(GPHN):c.2028G>A (p.Leu676=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002148066]	likely benign	14	67168985	67168985	Human	1	name
152157625	CV1573256	single nucleotide variant	NM_020806.5(GPHN):c.2227T>C (p.Leu743=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002180354]	likely benign	14	67180854	67180854	Human	1	name
152063704	CV1575222	single nucleotide variant	NM_020806.5(GPHN):c.1248C>T (p.Gly416=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002110454]	likely benign	14	67100866	67100866	Human	1	name
152175190	CV1602012	single nucleotide variant	NM_020806.5(GPHN):c.2154A>G (p.Pro718=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002163409]	likely benign	14	67179652	67179652	Human	1	name
152088971	CV1603376	single nucleotide variant	NM_020806.5(GPHN):c.1908A>T (p.Pro636=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002077445]	likely benign	14	67159486	67159486	Human	1	name
152131796	CV1604630	single nucleotide variant	NM_020806.5(GPHN):c.1929A>C (p.Ala643=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002099590]	likely benign	14	67165180	67165180	Human	1	name
152053076	CV1619258	single nucleotide variant	NM_020806.5(GPHN):c.1590G>A (p.Lys530=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002167113]	likely benign	14	67113135	67113135	Human	1	name
152104882	CV1622753	single nucleotide variant	NM_020806.5(GPHN):c.1770C>T (p.Ala590=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002214673]	likely benign	14	67143383	67143383	Human	1	name
152140381	CV1625131	single nucleotide variant	NM_020806.5(GPHN):c.1716C>T (p.Tyr572=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002219292]	likely benign	14	67122345	67122345	Human	1	name
152100673	CV1645637	single nucleotide variant	NM_020806.5(GPHN):c.2118C>T (p.Tyr706=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002173057]	likely benign	14	67179616	67179616	Human	1	name
152056096	CV1649402	single nucleotide variant	NM_020806.5(GPHN):c.2256C>T (p.Tyr752=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002127793]	likely benign	14	67180883	67180883	Human	1	name
152120789	CV1657537	single nucleotide variant	NM_020806.5(GPHN):c.1764C>G (p.Leu588=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002216742]	likely benign	14	67143377	67143377	Human	1	name
155691454	CV1778014	single nucleotide variant	NM_020806.5(GPHN):c.103A>G (p.Ser35Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002299328]	uncertain significance	14	66681145	66681145	Human	1	name
155678491	CV1779229	single nucleotide variant	NM_020806.5(GPHN):c.215A>G (p.Asp72Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002297990]	uncertain significance	14	66824487	66824487	Human	1	name
156320412	CV1873016	single nucleotide variant	NM_020806.5(GPHN):c.170A>G (p.Lys57Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003063023]	uncertain significance	14	66776490	66776490	Human	1	name
156378731	CV1876734	single nucleotide variant	NM_020806.5(GPHN):c.157A>G (p.Ile53Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003066973]	uncertain significance	14	66776477	66776477	Human	1	name
156362056	CV1881309	single nucleotide variant	NM_020806.5(GPHN):c.1035G>A (p.Val345=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003065686]	likely benign	14	67058677	67058677	Human	1	name
156353692	CV1884616	single nucleotide variant	NM_020806.5(GPHN):c.1233C>G (p.Val411=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003091174]	likely benign	14	67089071	67089071	Human	1	name
156406538	CV1891157	single nucleotide variant	NM_020806.5(GPHN):c.1116G>A (p.Val372=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003070400]	likely benign	14	67058758	67058758	Human	1	name
156365207	CV1908387	single nucleotide variant	NM_020806.5(GPHN):c.1527C>T (p.His509=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002582013]	likely benign	14	67113072	67113072	Human	1	name
156034665	CV1932617	single nucleotide variant	NM_020806.5(GPHN):c.154A>G (p.Thr52Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002637316]	uncertain significance	14	66776474	66776474	Human	1	name
156440859	CV1940587	single nucleotide variant	NM_020806.5(GPHN):c.2064C>G (p.Thr688=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003110902]	likely benign	14	67169021	67169021	Human	1	name
156230862	CV1965642	single nucleotide variant	NM_020806.5(GPHN):c.1710T>C (p.His570=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002596803]	likely benign	14	67122339	67122339	Human	1	name
155913709	CV1990301	single nucleotide variant	NM_020806.5(GPHN):c.1155G>C (p.Gly385=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002614171]	likely benign	14	67088993	67088993	Human	1	name
156405500	CV1994436	single nucleotide variant	NM_020806.5(GPHN):c.2109T>C (p.Arg703=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002658321]	likely benign	14	67179607	67179607	Human	1	name
156350233	CV2018651	single nucleotide variant	NM_020806.5(GPHN):c.1200C>T (p.Pro400=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002720129]	likely benign	14	67089038	67089038	Human	1	name
156126988	CV2031297	single nucleotide variant	NM_020806.5(GPHN):c.2133A>G (p.Leu711=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002740420]	likely benign	14	67179631	67179631	Human	1	name
156000089	CV2074569	single nucleotide variant	NM_020806.5(GPHN):c.1627C>T (p.Leu543=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002843364]	uncertain significance	14	67122256	67122256	Human	1	name
156122433	CV2078214	single nucleotide variant	NM_020806.5(GPHN):c.2253G>A (p.Gln751=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002889615]	likely benign	14	67180880	67180880	Human	1	name
156134792	CV2085760	single nucleotide variant	NM_020806.5(GPHN):c.1362T>C (p.Ala454=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002871767]	likely benign	14	67110208	67110208	Human	1	name
156029973	CV2088692	duplication	NM_020806.5(GPHN):c.630dup (p.Gln211fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002867008]	pathogenic	14	66922837	66922838	Human	1	name
155916134	CV2091761	single nucleotide variant	NM_020806.5(GPHN):c.1327C>A (p.Arg443=)	GPHN-related disorder [RCV003926470]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002903096]	likely benign	14	67110173	67110173	Human	1	name , trait , alternate_id
156029073	CV2096988	deletion	NM_020806.5(GPHN):c.747del (p.Ser250fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002885319]	pathogenic	14	66924210	66924210	Human	1	name
156316286	CV2104143	single nucleotide variant	NM_020806.5(GPHN):c.1923A>G (p.Thr641=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002937468]	likely benign	14	67165174	67165174	Human	1	name
156200486	CV2110020	single nucleotide variant	NM_020806.5(GPHN):c.168C>A (p.Tyr56Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002957360]	pathogenic	14	66776488	66776488	Human	1	name
156159586	CV2118593	single nucleotide variant	NM_020806.5(GPHN):c.1074T>C (p.Ser358=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002929193]	likely benign	14	67058716	67058716	Human	1	name
155907303	CV2130873	single nucleotide variant	NM_020806.5(GPHN):c.1113G>C (p.Pro371=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002967791]	likely benign	14	67058755	67058755	Human	1	name
155960009	CV2131748	single nucleotide variant	NM_020806.5(GPHN):c.1014T>C (p.Ser338=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002995108]	likely benign	14	67058656	67058656	Human	1	name
156248558	CV2145784	single nucleotide variant	NM_020806.5(GPHN):c.2131C>T (p.Leu711=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003008362]	likely benign	14	67179629	67179629	Human	1	name
155923996	CV2148674	single nucleotide variant	NM_020806.5(GPHN):c.2094A>G (p.Val698=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003013321]	likely benign	14	67179592	67179592	Human	1	name
156130197	CV2151922	single nucleotide variant	NM_020806.5(GPHN):c.1356C>T (p.Cys452=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003003328]	likely benign	14	67110202	67110202	Human	1	name
156000970	CV2159523	single nucleotide variant	NM_020806.5(GPHN):c.2197C>T (p.Leu733=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003017270]	likely benign	14	67180824	67180824	Human	1	name
156132042	CV2182194	single nucleotide variant	NM_020806.5(GPHN):c.1947T>C (p.Gly649=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003055873]	likely benign	14	67165198	67165198	Human	1	name
155963416	CV2183710	single nucleotide variant	NM_020806.5(GPHN):c.1482C>G (p.Gly494=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003033052]	likely benign	14	67113027	67113027	Human	1	name
402478462	CV2880988	single nucleotide variant	NM_020806.5(GPHN):c.1389C>T (p.Thr463=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506171]	likely benign	14	67110235	67110235	Human	1	name
402480876	CV2887281	single nucleotide variant	NM_020806.5(GPHN):c.1473A>G (p.Arg491=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506465]	uncertain significance	14	67113018	67113018	Human	1	name
402479586	CV2892617	single nucleotide variant	NM_020806.5(GPHN):c.2286T>C (p.Asp762=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506309]	likely benign	14	67180913	67180913	Human	1	name
402482091	CV2901999	single nucleotide variant	NM_020806.5(GPHN):c.1968A>G (p.Ala656=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506604]	likely benign	14	67165219	67165219	Human	1	name
402475082	CV2922632	single nucleotide variant	NM_020806.5(GPHN):c.1182A>C (p.Ala394=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505558]	likely benign	14	67089020	67089020	Human	1	name
402475243	CV2923010	single nucleotide variant	NM_020806.5(GPHN):c.274C>T (p.Pro92Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505591]	uncertain significance	14	66824546	66824546	Human	1	name
405113647	CV2946049	single nucleotide variant	NM_020806.5(GPHN):c.1818T>C (p.Gly606=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616052]	likely benign	14	67143431	67143431	Human	1	name
405113935	CV2953905	single nucleotide variant	NM_020806.5(GPHN):c.1989G>T (p.Ser663=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616101]	likely benign	14	67168946	67168946	Human	1	name
405114986	CV2965496	single nucleotide variant	NM_020806.5(GPHN):c.1470C>T (p.Ile490=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616281]	uncertain significance	14	67111917	67111917	Human	1	name
405114649	CV2971329	single nucleotide variant	NM_020806.5(GPHN):c.1759T>C (p.Leu587=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616220]	likely benign	14	67143372	67143372	Human	1	name
405116611	CV2980067	single nucleotide variant	NM_020806.5(GPHN):c.274C>G (p.Pro92Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616494]	uncertain significance	14	66824546	66824546	Human	1	name
405116624	CV2980389	single nucleotide variant	NM_020806.5(GPHN):c.1284T>C (p.Ala428=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616496]	likely benign	14	67100902	67100902	Human	1	name
405117285	CV2999144	single nucleotide variant	NM_020806.5(GPHN):c.112A>G (p.Asn38Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616582]	uncertain significance	14	66681154	66681154	Human	1	name
405122012	CV3054665	single nucleotide variant	NM_020806.5(GPHN):c.1917A>C (p.Pro639=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617171]	likely benign	14	67165168	67165168	Human	1	name
405112354	CV3072167	single nucleotide variant	NM_020806.5(GPHN):c.1668A>T (p.Arg556=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615769]	likely benign	14	67122297	67122297	Human	1	name
405112538	CV3072556	single nucleotide variant	NM_020806.5(GPHN):c.1203C>T (p.Phe401=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615802]	likely benign	14	67089041	67089041	Human	1	name
405112612	CV3081591	single nucleotide variant	NM_020806.5(GPHN):c.1809A>G (p.Thr603=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615817]	likely benign	14	67143422	67143422	Human	1	name
405151431	CV3123397	single nucleotide variant	NM_020806.5(GPHN):c.1464A>G (p.Gln488=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003817630]	likely benign	14	67111911	67111911	Human	1	name
405041970	CV3141185	single nucleotide variant	NM_020806.5(GPHN):c.143T>G (p.Leu48Trp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003831478]	uncertain significance	14	66681185	66681185	Human	1	name
405101498	CV3144340	single nucleotide variant	NM_020806.5(GPHN):c.1776T>C (p.Asn592=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003852793]	likely benign	14	67143389	67143389	Human	1	name
405254667	CV3175445	single nucleotide variant	NM_020806.5(GPHN):c.2085A>G (p.Ser695=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003871712]	likely benign	14	67179583	67179583	Human	1	name
12850026	CV364011	single nucleotide variant	NM_020806.5(GPHN):c.127G>T (p.Val43Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001081067]\|not provided [RCV000440362]\|not specified [RCV003114535]	benign\|likely benign	14	66681169	66681169	Human	1	name
597949995	CV3768560	deletion	NM_020806.5(GPHN):c.788del (p.Pro263fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005120746]	pathogenic	14	66924250	66924250	Human	1	name
597941534	CV3785815	single nucleotide variant	NM_020806.5(GPHN):c.1047T>C (p.His349=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005133708]	likely benign	14	67058689	67058689	Human	1	name
597887899	CV3787647	single nucleotide variant	NM_020806.5(GPHN):c.2274C>T (p.Gly758=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005125213]	uncertain significance	14	67180901	67180901	Human	1	name
597893926	CV3810007	single nucleotide variant	NM_020806.5(GPHN):c.1332T>C (p.Val444=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005151728]	likely benign	14	67110178	67110178	Human	1	name
597867979	CV3838821	single nucleotide variant	NM_020806.5(GPHN):c.131A>C (p.Gln44Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005176117]	uncertain significance	14	66681173	66681173	Human	1	name
597953981	CV3844314	single nucleotide variant	NM_020806.5(GPHN):c.1176A>G (p.Val392=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005190987]	likely benign	14	67089014	67089014	Human	1	name
597887159	CV3855266	single nucleotide variant	NM_020806.5(GPHN):c.101G>A (p.Arg34His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005199911]	uncertain significance	14	66681143	66681143	Human	1	name
598274028	CV3970915	single nucleotide variant	NM_020806.5(GPHN):c.122A>G (p.Asp41Gly)	Inborn genetic diseases [RCV005351213]	uncertain significance	14	66681164	66681164	Human	1	name
13483152	CV463435	single nucleotide variant	NM_020806.5(GPHN):c.1734T>C (p.Gly578=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000529729]\|not provided [RCV004715283]	benign	14	67122363	67122363	Human	1	name
13475960	CV464001	single nucleotide variant	NM_020806.5(GPHN):c.271G>A (p.Ala91Thr)	Inborn genetic diseases [RCV002526142]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000548955]	likely benign\|uncertain significance	14	66824543	66824543	Human	2	name
13484553	CV464330	single nucleotide variant	NM_020806.5(GPHN):c.1173T>C (p.Asp391=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000552821]	likely benign	14	67089011	67089011	Human	1	name
13493170	CV464344	single nucleotide variant	NM_020806.5(GPHN):c.1971A>C (p.Leu657=)	GPHN-related disorder [RCV003962522]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000535482]\|not provided [RCV003403293]	likely benign	14	67165222	67165222	Human	1	name , trait , alternate_id
13471287	CV464453	single nucleotide variant	NM_020806.5(GPHN):c.1797T>C (p.Asp599=)	Hyperekplexia 1 [RCV002497132]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000546759]\|not provided [RCV001577324]	benign\|likely benign	14	67143410	67143410	Human	2	name
13612104	CV528334	single nucleotide variant	NM_020806.5(GPHN):c.1095A>G (p.Thr365=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001422447]	likely benign	14	67058737	67058737	Human	1	name
13612098	CV528777	single nucleotide variant	NM_020806.5(GPHN):c.1020C>T (p.Val340=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001475065]	likely benign	14	67058662	67058662	Human	1	name
13612100	CV528780	single nucleotide variant	NM_020806.5(GPHN):c.2124G>A (p.Arg708=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642148]	likely benign	14	67179622	67179622	Human	1	name
13807155	CV572884	single nucleotide variant	NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	Hyperekplexia 1 [RCV002507188]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000686556]\|not provided [RCV004721550]	conflicting interpretations of pathogenicity\|uncertain significance	14	66681169	66681169	Human	2	name
13821217	CV572885	single nucleotide variant	NM_020806.5(GPHN):c.144G>T (p.Leu48Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000695575]	uncertain significance	14	66776464	66776464	Human	1	name
15177304	CV725763	single nucleotide variant	NM_020806.5(GPHN):c.1857G>C (p.Leu619=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002065498]	likely benign	14	67159435	67159435	Human	1	name
15180585	CV739284	single nucleotide variant	NM_020806.5(GPHN):c.1164T>C (p.Leu388=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002065758]	likely benign	14	67089002	67089002	Human	1	name
15117081	CV739285	single nucleotide variant	NM_020806.5(GPHN):c.1944T>C (p.Asp648=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000895316]	likely benign	14	67165195	67165195	Human	1	name
15182778	CV739286	single nucleotide variant	NM_020806.5(GPHN):c.2034A>G (p.Lys678=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001395776]	likely benign	14	67168991	67168991	Human	1	name
15139063	CV754126	single nucleotide variant	NM_020806.5(GPHN):c.2244G>A (p.Lys748=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002540987]	likely benign	14	67180871	67180871	Human	1	name
15118947	CV754127	single nucleotide variant	NM_020806.5(GPHN):c.2307A>G (p.Leu769=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001443998]	likely benign	14	67180934	67180934	Human	1	name
15182389	CV769873	single nucleotide variant	NM_020806.5(GPHN):c.1563A>G (p.Val521=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002066095]	likely benign	14	67113108	67113108	Human	1	name
15186323	CV769874	single nucleotide variant	NM_020806.5(GPHN):c.1722G>A (p.Thr574=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001462678]	likely benign	14	67122351	67122351	Human	1	name
15132307	CV784747	single nucleotide variant	NM_020806.5(GPHN):c.1191T>C (p.Asn397=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000981358]	likely benign	14	67089029	67089029	Human	1	name
15107180	CV784748	single nucleotide variant	NM_020806.5(GPHN):c.1686T>C (p.Thr562=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001463169]	likely benign	14	67122315	67122315	Human	1	name
26902950	CV841663	single nucleotide variant	NM_020806.5(GPHN):c.100C>T (p.Arg34Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001050321]	uncertain significance	14	66681142	66681142	Human	1	name
26896002	CV841664	single nucleotide variant	NM_020806.5(GPHN):c.172A>T (p.Ile58Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001048059]	uncertain significance	14	66776492	66776492	Human	1	name
26917966	CV841665	single nucleotide variant	NM_020806.5(GPHN):c.278G>A (p.Arg93Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001057393]	uncertain significance	14	66824550	66824550	Human	1	name
26886273	CV841673	single nucleotide variant	NM_020806.5(GPHN):c.1989G>A (p.Ser663=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001065957]\|not provided [RCV004693563]	likely benign\|uncertain significance	14	67168946	67168946	Human	1	name
38480264	CV927149	single nucleotide variant	NM_020806.5(GPHN):c.1272G>A (p.Gly424=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001217463]	likely benign\|uncertain significance	14	67100890	67100890	Human	1	name
126750836	CV995940	single nucleotide variant	NM_020806.5(GPHN):c.148G>A (p.Gly50Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001306923]	uncertain significance	14	66776468	66776468	Human	1	name
150514886	CV1228662	microsatellite	NM_020806.5(GPHN):c.1975+247_1975+268del	not provided [RCV001638650]	benign	14	67165449	67165470	Human		name
150548832	CV1293925	single nucleotide variant	NM_020806.5(GPHN):c.749G>T (p.Ser250Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505182]\|not provided [RCV001764764]	uncertain significance	14	66924213	66924213	Human	1	name
150551221	CV1297248	single nucleotide variant	NM_020806.5(GPHN):c.550G>A (p.Glu184Lys)	not provided [RCV001766930]	uncertain significance	14	66922759	66922759	Human		name
150553289	CV1298338	single nucleotide variant	NM_020806.5(GPHN):c.950G>T (p.Cys317Phe)	not provided [RCV001768952]	uncertain significance	14	66965312	66965312	Human		name
151351546	CV1321842	single nucleotide variant	NM_020806.5(GPHN):c.589C>A (p.Pro197Thr)	not provided [RCV001806512]	uncertain significance	14	66922798	66922798	Human		name
151892221	CV1337406	single nucleotide variant	NM_020806.5(GPHN):c.346C>G (p.Leu116Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001943888]	uncertain significance	14	66879990	66879990	Human	1	name
151809836	CV1338907	single nucleotide variant	NM_020806.5(GPHN):c.914G>A (p.Arg305His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002012329]	uncertain significance	14	66965276	66965276	Human	1	name
151887347	CV1341276	single nucleotide variant	NM_020806.5(GPHN):c.884C>T (p.Ser295Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001887742]	uncertain significance	14	66965246	66965246	Human	1	name
151817146	CV1385578	single nucleotide variant	NM_020806.5(GPHN):c.994A>G (p.Ile332Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002013015]	uncertain significance	14	67023663	67023663	Human	1	name
151820320	CV1398210	single nucleotide variant	NM_020806.5(GPHN):c.413A>G (p.Lys138Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002013310]	uncertain significance	14	66916026	66916026	Human	1	name
151742439	CV1409409	single nucleotide variant	NM_020806.5(GPHN):c.496A>G (p.Ile166Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001893397]	uncertain significance	14	66922705	66922705	Human	1	name
151822655	CV1418912	single nucleotide variant	NM_020806.5(GPHN):c.796A>T (p.Ile266Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001954913]	uncertain significance	14	66924260	66924260	Human	1	name
151782739	CV1422329	single nucleotide variant	NM_020806.5(GPHN):c.422T>C (p.Ile141Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001972228]	uncertain significance	14	66916035	66916035	Human	1	name
151822961	CV1424997	single nucleotide variant	NM_020806.5(GPHN):c.509G>A (p.Arg170His)	Inborn genetic diseases [RCV004041566]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001919754]	uncertain significance	14	66922718	66922718	Human	2	name
151762991	CV1433902	single nucleotide variant	NM_020806.5(GPHN):c.595A>G (p.Thr199Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002024591]	uncertain significance	14	66922804	66922804	Human	1	name
151839037	CV1439024	duplication	NM_020806.5(GPHN):c.1907dup (p.Gly637fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001994508]	pathogenic	14	67159483	67159484	Human	1	name
151817413	CV1441155	single nucleotide variant	NM_020806.5(GPHN):c.322G>A (p.Ala108Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001933809]	uncertain significance	14	66879966	66879966	Human	1	name
151825154	CV1456647	single nucleotide variant	NM_020806.5(GPHN):c.767C>T (p.Ala256Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002050181]	uncertain significance	14	66924231	66924231	Human	1	name
151844476	CV1457839	single nucleotide variant	NM_020806.5(GPHN):c.728A>G (p.Lys243Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001936521]	uncertain significance	14	66922937	66922937	Human	1	name
151841027	CV1463048	single nucleotide variant	NM_020806.5(GPHN):c.922G>C (p.Ala308Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002031819]	uncertain significance	14	66965284	66965284	Human	1	name
151837992	CV1469979	single nucleotide variant	NM_020806.5(GPHN):c.394G>C (p.Val132Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001881008]	uncertain significance	14	66916007	66916007	Human	1	name
151801505	CV1475255	single nucleotide variant	NM_020806.5(GPHN):c.508C>T (p.Arg170Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001952973]	uncertain significance	14	66922717	66922717	Human	1	name
151846707	CV1501835	single nucleotide variant	NM_020806.5(GPHN):c.857T>G (p.Val286Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002016012]	uncertain significance	14	66965219	66965219	Human	1	name
151891650	CV1502822	single nucleotide variant	NM_020806.5(GPHN):c.779A>G (p.Gln260Arg)	Inborn genetic diseases [RCV004044042]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001943447]	uncertain significance	14	66924243	66924243	Human	2	name
151855402	CV1504777	single nucleotide variant	NM_020806.5(GPHN):c.535G>A (p.Val179Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002033706]	uncertain significance	14	66922744	66922744	Human	1	name
156131468	CV1885543	single nucleotide variant	NM_020806.5(GPHN):c.988G>C (p.Glu330Gln)	Inborn genetic diseases [RCV004071772]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003081855]	uncertain significance	14	67023657	67023657	Human	2	name
156412534	CV1904474	single nucleotide variant	NM_020806.5(GPHN):c.865C>T (p.Leu289Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002587851]	uncertain significance	14	66965227	66965227	Human	1	name
156280057	CV1912124	single nucleotide variant	NM_020806.5(GPHN):c.772G>A (p.Gly258Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002628398]	uncertain significance	14	66924236	66924236	Human	1	name
156418070	CV1914380	single nucleotide variant	NM_020806.5(GPHN):c.977G>A (p.Cys326Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002611245]	uncertain significance	14	67023646	67023646	Human	1	name
156180700	CV1924454	single nucleotide variant	NM_020806.5(GPHN):c.872G>A (p.Arg291Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002625029]	uncertain significance	14	66965234	66965234	Human	1	name
156216901	CV1927782	single nucleotide variant	NM_020806.5(GPHN):c.601C>T (p.Pro201Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002644235]	uncertain significance	14	66922810	66922810	Human	1	name
156438829	CV1943383	single nucleotide variant	NM_020806.5(GPHN):c.763A>G (p.Met255Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003108777]	uncertain significance	14	66924227	66924227	Human	1	name
156219079	CV2028813	single nucleotide variant	NM_020806.5(GPHN):c.811C>T (p.His271Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002712068]	uncertain significance	14	66924275	66924275	Human	1	name
156237138	CV2036676	single nucleotide variant	NM_020806.5(GPHN):c.565C>T (p.Pro189Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002805539]	uncertain significance	14	66922774	66922774	Human	1	name
155943123	CV2039338	single nucleotide variant	NM_020806.5(GPHN):c.805T>C (p.Ser269Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002775324]	uncertain significance	14	66924269	66924269	Human	1	name
156013128	CV2071971	single nucleotide variant	NM_020806.5(GPHN):c.734A>C (p.His245Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002843984]	uncertain significance	14	66924198	66924198	Human	1	name
156148692	CV2090990	single nucleotide variant	NM_020806.5(GPHN):c.844A>G (p.Ile282Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002890578]	uncertain significance	14	66965206	66965206	Human	1	name
156020177	CV2109499	single nucleotide variant	NM_020806.5(GPHN):c.541G>A (p.Asp181Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002923024]	uncertain significance	14	66922750	66922750	Human	1	name
156309883	CV2111225	deletion	NM_020806.5(GPHN):c.1206del (p.Ala403fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002937103]	pathogenic	14	67089044	67089044	Human	1	name
156390493	CV2122445	single nucleotide variant	NM_020806.5(GPHN):c.586C>A (p.Pro196Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002943852]	uncertain significance	14	66922795	66922795	Human	1	name
156320566	CV2138045	single nucleotide variant	NM_020806.5(GPHN):c.751C>T (p.Pro251Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002963165]	uncertain significance	14	66924215	66924215	Human	1	name
156082947	CV2138322	single nucleotide variant	NM_020806.5(GPHN):c.886C>T (p.Leu296Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002979324]	uncertain significance	14	66965248	66965248	Human	1	name
156195923	CV2158907	single nucleotide variant	NM_020806.5(GPHN):c.315A>T (p.Glu105Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003041802]	uncertain significance	14	66879959	66879959	Human	1	name
155982962	CV2163226	single nucleotide variant	NM_020806.5(GPHN):c.343A>G (p.Met115Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003033966]	uncertain significance	14	66879987	66879987	Human	1	name
156230300	CV2164990	single nucleotide variant	NM_020806.5(GPHN):c.983G>A (p.Ser328Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003043060]	uncertain significance	14	67023652	67023652	Human	1	name
156223479	CV2183764	single nucleotide variant	NM_020806.5(GPHN):c.400G>A (p.Gly134Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003025285]	pathogenic	14	66916013	66916013	Human	1	name
156046036	CV2216054	single nucleotide variant	NM_020806.5(GPHN):c.517A>G (p.Ile173Val)	Inborn genetic diseases [RCV002692568]	uncertain significance	14	66922726	66922726	Human	1	name
156380555	CV2218814	single nucleotide variant	NM_020806.5(GPHN):c.518T>C (p.Ile173Thr)	Inborn genetic diseases [RCV002678618]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003777646]	uncertain significance	14	66922727	66922727	Human	2	name
156071638	CV2267322	single nucleotide variant	NM_020806.5(GPHN):c.575C>T (p.Pro192Leu)	Inborn genetic diseases [RCV002823484]	uncertain significance	14	66922784	66922784	Human	1	name
155921373	CV2276293	single nucleotide variant	NM_020806.5(GPHN):c.893C>T (p.Thr298Ile)	Inborn genetic diseases [RCV002859713]	uncertain significance	14	66965255	66965255	Human	1	name
156017016	CV2295479	single nucleotide variant	NM_020806.5(GPHN):c.889A>T (p.Ser297Cys)	Inborn genetic diseases [RCV002884639]	uncertain significance	14	66965251	66965251	Human	1	name
401778030	CV2704552	single nucleotide variant	NM_020806.5(GPHN):c.817A>G (p.Thr273Ala)	Inborn genetic diseases [RCV003286930]	likely benign	14	66924281	66924281	Human	1	name
401924152	CV2801061	deletion	NM_020806.5(GPHN):c.1064del (p.Pro355fs)	GPHN-related disorder [RCV003404650]	uncertain significance	14	67058705	67058705	Human		name , trait , alternate_id
402478437	CV2880719	single nucleotide variant	NM_020806.5(GPHN):c.518T>A (p.Ile173Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506167]	uncertain significance	14	66922727	66922727	Human	1	name
402479195	CV2888352	single nucleotide variant	NM_020806.5(GPHN):c.718A>G (p.Ile240Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506266]	uncertain significance	14	66922927	66922927	Human	1	name
402479916	CV2892893	single nucleotide variant	NM_020806.5(GPHN):c.353G>A (p.Gly118Glu)	Inborn genetic diseases [RCV004634287]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506348]	uncertain significance	14	66879997	66879997	Human	2	name
402481582	CV2904710	duplication	NM_020806.5(GPHN):c.1275dup (p.Ser426fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506554]	pathogenic	14	67100891	67100892	Human	1	name
402471785	CV2919274	single nucleotide variant	NM_020806.5(GPHN):c.913C>G (p.Arg305Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504753]	uncertain significance	14	66965275	66965275	Human	1	name
402475554	CV2933113	single nucleotide variant	NM_020806.5(GPHN):c.635G>A (p.Cys212Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505648]	uncertain significance	14	66922844	66922844	Human	1	name
405113147	CV2937146	single nucleotide variant	NM_020806.5(GPHN):c.741C>G (p.Phe247Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615989]	uncertain significance	14	66924205	66924205	Human	1	name
405114383	CV2952626	single nucleotide variant	NM_020806.5(GPHN):c.784A>G (p.Ile262Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616175]	uncertain significance	14	66924248	66924248	Human	1	name
405114683	CV2967924	single nucleotide variant	NM_020806.5(GPHN):c.772G>T (p.Gly258Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616227]	uncertain significance	14	66924236	66924236	Human	1	name
405115202	CV2969478	single nucleotide variant	NM_020806.5(GPHN):c.361A>G (p.Asn121Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616313]	uncertain significance	14	66880005	66880005	Human	1	name
405116177	CV2983008	single nucleotide variant	NM_020806.5(GPHN):c.667G>A (p.Gly223Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616439]	uncertain significance	14	66922876	66922876	Human	1	name
405117320	CV2995524	single nucleotide variant	NM_020806.5(GPHN):c.904G>T (p.Glu302Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616586]	pathogenic	14	66965266	66965266	Human	1	name
405117846	CV3003924	single nucleotide variant	NM_020806.5(GPHN):c.412A>G (p.Lys138Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616651]	uncertain significance	14	66916025	66916025	Human	1	name
405118640	CV3005812	single nucleotide variant	NM_020806.5(GPHN):c.347T>A (p.Leu116Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616751]	uncertain significance	14	66879991	66879991	Human	1	name
405120384	CV3024003	single nucleotide variant	NM_020806.5(GPHN):c.501C>G (p.Asp167Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616973]	uncertain significance	14	66922710	66922710	Human	1	name
405119427	CV3024734	single nucleotide variant	NM_020806.5(GPHN):c.593C>T (p.Thr198Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616850]	uncertain significance	14	66922802	66922802	Human	1	name
405122534	CV3049602	single nucleotide variant	NM_020806.5(GPHN):c.818C>G (p.Thr273Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617240]	uncertain significance	14	66924282	66924282	Human	1	name
405121813	CV3050680	single nucleotide variant	NM_020806.5(GPHN):c.380T>C (p.Met127Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617144]	uncertain significance	14	66880024	66880024	Human	1	name
405110697	CV3064120	single nucleotide variant	NM_020806.5(GPHN):c.811C>G (p.His271Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615524]	uncertain significance	14	66924275	66924275	Human	1	name
405234717	CV3155575	single nucleotide variant	NM_020806.5(GPHN):c.596C>T (p.Thr199Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003853553]	uncertain significance	14	66922805	66922805	Human	1	name
405093848	CV3164181	single nucleotide variant	NM_020806.5(GPHN):c.760G>A (p.Val254Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003852496]	uncertain significance	14	66924224	66924224	Human	1	name
405788520	CV3255015	single nucleotide variant	NM_020806.5(GPHN):c.421A>T (p.Ile141Leu)	Inborn genetic diseases [RCV004388163]	uncertain significance	14	66916034	66916034	Human	1	name
597680798	CV3688498	single nucleotide variant	NM_020806.5(GPHN):c.995T>A (p.Ile332Asn)	Inborn genetic diseases [RCV004982726]	uncertain significance	14	67023664	67023664	Human	1	name
597830740	CV3743279	single nucleotide variant	NM_020806.5(GPHN):c.754G>T (p.Ala252Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005062287]	uncertain significance	14	66924218	66924218	Human	1	name
597941322	CV3769156	single nucleotide variant	NM_020806.5(GPHN):c.847T>A (p.Ser283Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005118651]	uncertain significance	14	66965209	66965209	Human	1	name
597934330	CV3777031	single nucleotide variant	NM_020806.5(GPHN):c.854G>T (p.Gly285Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005117190]	uncertain significance	14	66965216	66965216	Human	1	name
597921672	CV3777397	duplication	NM_020806.5(GPHN):c.2140dup (p.His714fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005130326]	uncertain significance	14	67179637	67179638	Human	1	name
597914337	CV3778868	single nucleotide variant	NM_020806.5(GPHN):c.523A>G (p.Lys175Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005129213]	uncertain significance	14	66922732	66922732	Human	1	name
597898979	CV3782845	single nucleotide variant	NM_020806.5(GPHN):c.848C>A (p.Ser283Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005126865]	uncertain significance	14	66965210	66965210	Human	1	name
597965984	CV3793873	single nucleotide variant	NM_020806.5(GPHN):c.791G>A (p.Gly264Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005140255]	uncertain significance	14	66924255	66924255	Human	1	name
597952329	CV3795104	single nucleotide variant	NM_020806.5(GPHN):c.705A>G (p.Ile235Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005136316]	uncertain significance	14	66922914	66922914	Human	1	name
597963702	CV3795879	single nucleotide variant	NM_020806.5(GPHN):c.953C>G (p.Pro318Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005139369]	uncertain significance	14	66965315	66965315	Human	1	name
597947715	CV3800773	single nucleotide variant	NM_020806.5(GPHN):c.712G>T (p.Ala238Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005135173]	uncertain significance	14	66922921	66922921	Human	1	name
597971704	CV3802666	single nucleotide variant	NM_020806.5(GPHN):c.913C>T (p.Arg305Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005142264]	uncertain significance	14	66965275	66965275	Human	1	name
597888443	CV3805596	single nucleotide variant	NM_020806.5(GPHN):c.851G>A (p.Arg284His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005150938]	uncertain significance	14	66965213	66965213	Human	1	name
597928703	CV3816062	single nucleotide variant	NM_020806.5(GPHN):c.534G>C (p.Glu178Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005156643]	uncertain significance	14	66922743	66922743	Human	1	name
597931766	CV3837917	single nucleotide variant	NM_020806.5(GPHN):c.673G>T (p.Ala225Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005185886]	uncertain significance	14	66922882	66922882	Human	1	name
598233474	CV3970914	single nucleotide variant	NM_020806.5(GPHN):c.767C>A (p.Ala256Glu)	Inborn genetic diseases [RCV005342767]	uncertain significance	14	66924231	66924231	Human	1	name
12901284	CV409144	single nucleotide variant	NM_020806.5(GPHN):c.908C>T (p.Ser303Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003766715]\|not provided [RCV000484321]	uncertain significance	14	66965270	66965270	Human	1	name
13478006	CV464328	single nucleotide variant	NM_020806.5(GPHN):c.716C>G (p.Ala239Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000549866]	uncertain significance	14	66922925	66922925	Human	1	name
13474517	CV464445	single nucleotide variant	NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)	GPHN-related disorder [RCV003915563]\|Hyperekplexia 1 [RCV002491021]\|Inborn genetic diseases [RCV002528404]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000615079]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency typ ... (more) e C [RCV001084970]\|not provided [RCV000525871]	benign\|likely benign	14	66924264	66924264	Human	6	name , trait , alternate_id
13627097	CV528331	single nucleotide variant	NM_020806.5(GPHN):c.381G>A (p.Met127Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642143]	uncertain significance	14	66880025	66880025	Human	1	name
13612077	CV528698	single nucleotide variant	NM_020806.5(GPHN):c.307G>A (p.Val103Ile)	Inborn genetic diseases [RCV004975741]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642138]	likely benign\|uncertain significance	14	66879951	66879951	Human	2	name
13814363	CV566587	single nucleotide variant	NM_020806.5(GPHN):c.543T>G (p.Asp181Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000690696]	uncertain significance	14	66922752	66922752	Human	1	name
13818027	CV566601	single nucleotide variant	NM_020806.5(GPHN):c.592A>C (p.Thr198Pro)	Inborn genetic diseases [RCV004972904]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000707416]	uncertain significance	14	66922801	66922801	Human	2	name
13808394	CV572890	single nucleotide variant	NM_020806.5(GPHN):c.826C>T (p.Arg276Trp)	Hyperekplexia 1 [RCV002499259]\|Inborn genetic diseases [RCV004985087]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000701613]	uncertain significance	14	66924290	66924290	Human	3	name
26915537	CV841666	single nucleotide variant	NM_020806.5(GPHN):c.325C>A (p.Pro109Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001055780]	uncertain significance	14	66879969	66879969	Human	1	name
26890035	CV841667	single nucleotide variant	NM_020806.5(GPHN):c.670G>A (p.Val224Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001067690]	uncertain significance	14	66922879	66922879	Human	1	name
26906965	CV841668	single nucleotide variant	NM_020806.5(GPHN):c.685G>A (p.Asp229Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001037729]	uncertain significance	14	66922894	66922894	Human	1	name
26888521	CV841669	single nucleotide variant	NM_020806.5(GPHN):c.931C>T (p.Arg311Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001067128]	uncertain significance	14	66965293	66965293	Human	1	name
26907183	CV841670	single nucleotide variant	NM_020806.5(GPHN):c.941C>T (p.Thr314Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001052111]	uncertain significance	14	66965303	66965303	Human	1	name
38484691	CV927148	single nucleotide variant	NM_020806.5(GPHN):c.715G>C (p.Ala239Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001219540]	uncertain significance	14	66922924	66922924	Human	1	name
38456481	CV948632	single nucleotide variant	NM_020806.5(GPHN):c.715G>A (p.Ala239Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001228366]	uncertain significance	14	66922924	66922924	Human	1	name
126737138	CV995942	single nucleotide variant	NM_020806.5(GPHN):c.692C>G (p.Ser231Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001295312]	uncertain significance	14	66922901	66922901	Human	1	name
126742724	CV1011181	single nucleotide variant	NM_020806.5(GPHN):c.1592T>C (p.Phe531Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001314701]	uncertain significance	14	67113137	67113137	Human	1	name
126741829	CV1017822	single nucleotide variant	NM_020806.5(GPHN):c.1170A>T (p.Gln390His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001329794]	uncertain significance	14	67089008	67089008	Human	1	name
126771479	CV1031684	single nucleotide variant	NM_020806.5(GPHN):c.1924T>A (p.Phe642Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001345063]	uncertain significance	14	67165175	67165175	Human	1	name
126914232	CV1048642	single nucleotide variant	NM_020806.5(GPHN):c.1676A>G (p.Asn559Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001370399]	uncertain significance	14	67122305	67122305	Human	1	name
126923694	CV1048643	single nucleotide variant	NM_020806.5(GPHN):c.1891A>G (p.Arg631Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001366142]	uncertain significance	14	67159469	67159469	Human	1	name
150334818	CV1166111	single nucleotide variant	NM_020806.5(GPHN):c.1709A>G (p.His570Arg)	Inborn genetic diseases [RCV005348545]\|not provided [RCV001531197]	uncertain significance	14	67122338	67122338	Human	1	name
150476983	CV1203122	single nucleotide variant	NM_020806.5(GPHN):c.1342G>T (p.Ala448Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001866132]\|not provided [RCV001589716]	uncertain significance	14	67110188	67110188	Human	1	name
150533502	CV1294238	single nucleotide variant	NM_020806.5(GPHN):c.2071A>T (p.Lys691Ter)	not provided [RCV001758256]	uncertain significance	14	67169028	67169028	Human		name
150548089	CV1305001	single nucleotide variant	NM_020806.5(GPHN):c.2054C>T (p.Pro685Leu)	not provided [RCV001764123]	uncertain significance	14	67169011	67169011	Human		name
151791960	CV1341378	single nucleotide variant	NM_020806.5(GPHN):c.1935G>C (p.Leu645Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001866331]	uncertain significance	14	67165186	67165186	Human	1	name
151766653	CV1348622	single nucleotide variant	NM_020806.5(GPHN):c.1350A>G (p.Ile450Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001895928]	uncertain significance	14	67110196	67110196	Human	1	name
151750981	CV1359185	single nucleotide variant	NM_020806.5(GPHN):c.1129A>G (p.Ile377Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001969185]	uncertain significance	14	67058771	67058771	Human	1	name
151884244	CV1366676	single nucleotide variant	NM_020806.5(GPHN):c.1234C>T (p.Arg412Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001941687]	pathogenic	14	67089072	67089072	Human	1	name
151837448	CV1371644	single nucleotide variant	NM_020806.5(GPHN):c.1739T>C (p.Val580Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001921136]	uncertain significance	14	67122368	67122368	Human	1	name
151792527	CV1375967	single nucleotide variant	NM_020806.5(GPHN):c.1927G>A (p.Ala643Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001973184]	uncertain significance	14	67165178	67165178	Human	1	name
151821511	CV1378583	single nucleotide variant	NM_020806.5(GPHN):c.1765A>G (p.Asn589Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029936]	uncertain significance	14	67143378	67143378	Human	1	name
151879575	CV1383715	single nucleotide variant	NM_020806.5(GPHN):c.1067T>C (p.Leu356Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001907495]	uncertain significance	14	67058709	67058709	Human	1	name
151667771	CV1385035	single nucleotide variant	NM_020806.5(GPHN):c.1987T>C (p.Ser663Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001982665]	uncertain significance	14	67168944	67168944	Human	1	name
151736991	CV1391602	single nucleotide variant	NM_020806.5(GPHN):c.1136A>T (p.Asn379Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002041824]	uncertain significance	14	67058778	67058778	Human	1	name
151743324	CV1401348	single nucleotide variant	NM_020806.5(GPHN):c.2123G>A (p.Arg708Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001947319]	uncertain significance	14	67179621	67179621	Human	1	name
151791637	CV1403017	single nucleotide variant	NM_020806.5(GPHN):c.1445T>G (p.Val482Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001898237]	uncertain significance	14	67111892	67111892	Human	1	name
151874712	CV1408537	single nucleotide variant	NM_020806.5(GPHN):c.1753G>C (p.Asp585His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001906922]	uncertain significance	14	67143366	67143366	Human	1	name
151769535	CV1409721	single nucleotide variant	NM_020806.5(GPHN):c.1642G>C (p.Asp548His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001896193]	uncertain significance	14	67122271	67122271	Human	1	name
151811976	CV1417538	single nucleotide variant	NM_020806.5(GPHN):c.1328G>T (p.Arg443Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029058]	uncertain significance	14	67110174	67110174	Human	1	name
151763021	CV1425585	single nucleotide variant	NM_020806.5(GPHN):c.1300C>G (p.Gln434Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001928744]	uncertain significance	14	67110146	67110146	Human	1	name
151789252	CV1434429	single nucleotide variant	NM_020806.5(GPHN):c.1199C>A (p.Pro400His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001876350]	uncertain significance	14	67089037	67089037	Human	1	name
151867646	CV1436008	single nucleotide variant	NM_020806.5(GPHN):c.1738G>T (p.Val580Leu)	Inborn genetic diseases [RCV004976012]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001997931]	uncertain significance	14	67122367	67122367	Human	2	name
151869699	CV1436455	single nucleotide variant	NM_020806.5(GPHN):c.1060T>C (p.Phe354Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002018776]	uncertain significance	14	67058702	67058702	Human	1	name
151886527	CV1445281	single nucleotide variant	NM_020806.5(GPHN):c.1735A>G (p.Ile579Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002000700]	uncertain significance	14	67122364	67122364	Human	1	name
151725324	CV1452291	single nucleotide variant	NM_020806.5(GPHN):c.1732G>A (p.Gly578Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002040604]	uncertain significance	14	67122361	67122361	Human	1	name
151755106	CV1453924	single nucleotide variant	NM_020806.5(GPHN):c.1790G>A (p.Arg597His)	Inborn genetic diseases [RCV005350730]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001913373]	uncertain significance	14	67143403	67143403	Human	2	name
151886735	CV1455215	single nucleotide variant	NM_020806.5(GPHN):c.1144G>C (p.Asp382His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002038037]	uncertain significance	14	67058786	67058786	Human	1	name
151775106	CV1455875	single nucleotide variant	NM_020806.5(GPHN):c.1466A>G (p.Asp489Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002045615]	uncertain significance	14	67111913	67111913	Human	1	name
151752378	CV1457437	single nucleotide variant	NM_020806.5(GPHN):c.1334C>T (p.Thr445Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001913113]	uncertain significance	14	67110180	67110180	Human	1	name
151807186	CV1463763	single nucleotide variant	NM_020806.5(GPHN):c.1594C>T (p.Pro532Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001932847]	uncertain significance	14	67113139	67113139	Human	1	name
151851478	CV1465171	single nucleotide variant	NM_020806.5(GPHN):c.1712G>A (p.Gly571Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001996017]	uncertain significance	14	67122341	67122341	Human	1	name
151717732	CV1469171	single nucleotide variant	NM_020806.5(GPHN):c.1249C>G (p.Pro417Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002039581]	uncertain significance	14	67100867	67100867	Human	1	name
151832321	CV1480429	single nucleotide variant	NM_020806.5(GPHN):c.1768G>T (p.Ala590Ser)	Inborn genetic diseases [RCV002557586]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001935181]	uncertain significance	14	67143381	67143381	Human	2	name
151858574	CV1486404	single nucleotide variant	NM_020806.5(GPHN):c.2185A>G (p.Met729Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001883634]	uncertain significance	14	67180812	67180812	Human	1	name
151872863	CV1487946	single nucleotide variant	NM_020806.5(GPHN):c.1827G>A (p.Met609Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001981529]	uncertain significance	14	67143440	67143440	Human	1	name
151786947	CV1490283	single nucleotide variant	NM_020806.5(GPHN):c.1363G>A (p.Asp455Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001931009]	uncertain significance	14	67110209	67110209	Human	1	name
151855283	CV1501872	single nucleotide variant	NM_020806.5(GPHN):c.1679G>A (p.Arg560His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002017097]	uncertain significance	14	67122308	67122308	Human	1	name
151730315	CV1506202	single nucleotide variant	NM_020806.5(GPHN):c.1804A>G (p.Ile602Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001892176]	uncertain significance	14	67143417	67143417	Human	1	name
151843861	CV1510984	single nucleotide variant	NM_020806.5(GPHN):c.1503A>C (p.Glu501Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001957085]	uncertain significance	14	67113048	67113048	Human	1	name
151729644	CV1515494	single nucleotide variant	NM_020806.5(GPHN):c.2275G>A (p.Glu759Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002041060]	uncertain significance	14	67180902	67180902	Human	1	name
151811591	CV1515629	single nucleotide variant	NM_020806.5(GPHN):c.1336A>G (p.Thr446Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002012490]\|not provided [RCV003408055]	uncertain significance	14	67110182	67110182	Human	1	name
155749449	CV1771647	single nucleotide variant	NM_020806.5(GPHN):c.1444G>C (p.Val482Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002304662]	uncertain significance	14	67111891	67111891	Human	1	name
155723784	CV1773579	single nucleotide variant	NM_020806.5(GPHN):c.2107C>T (p.Arg703Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002301383]	uncertain significance	14	67179605	67179605	Human	1	name
155731742	CV1776338	single nucleotide variant	NM_020806.5(GPHN):c.1667G>A (p.Arg556Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002301726]	uncertain significance	14	67122296	67122296	Human	1	name
155802868	CV1857822	single nucleotide variant	NM_020806.5(GPHN):c.1085C>A (p.Ala362Asp)	not provided [RCV002461672]	uncertain significance	14	67058727	67058727	Human		name
155946273	CV1872104	single nucleotide variant	NM_020806.5(GPHN):c.1396A>G (p.Ile466Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003073867]	uncertain significance	14	67110242	67110242	Human	1	name
156408095	CV1873233	single nucleotide variant	NM_020806.5(GPHN):c.1609A>T (p.Met537Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003071131]	uncertain significance	14	67113154	67113154	Human	1	name
156314203	CV1874716	single nucleotide variant	NM_020806.5(GPHN):c.1223G>A (p.Gly408Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003062639]	pathogenic	14	67089061	67089061	Human	1	name
156052488	CV1878684	single nucleotide variant	NM_020806.5(GPHN):c.2206A>G (p.Met736Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003053050]	uncertain significance	14	67180833	67180833	Human	1	name
156317549	CV1879745	single nucleotide variant	NM_020806.5(GPHN):c.1685C>G (p.Thr562Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003062847]	uncertain significance	14	67122314	67122314	Human	1	name
156323044	CV1882622	single nucleotide variant	NM_020806.5(GPHN):c.2122C>T (p.Arg708Trp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003089299]	uncertain significance	14	67179620	67179620	Human	1	name
156402648	CV1885465	single nucleotide variant	NM_020806.5(GPHN):c.1036G>A (p.Ala346Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003069316]	uncertain significance	14	67058678	67058678	Human	1	name
155991412	CV1894372	single nucleotide variant	NM_020806.5(GPHN):c.2303G>A (p.Arg768Gln)	Inborn genetic diseases [RCV003076131]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003076132]	uncertain significance	14	67180930	67180930	Human	2	name
156341028	CV1898796	single nucleotide variant	NM_020806.5(GPHN):c.2261A>C (p.Glu754Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003090363]	uncertain significance	14	67180888	67180888	Human	1	name
156371580	CV1901417	single nucleotide variant	NM_020806.5(GPHN):c.1051A>G (p.Met351Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002582454]	uncertain significance	14	67058693	67058693	Human	1	name
156359750	CV1908385	single nucleotide variant	NM_020806.5(GPHN):c.2195G>A (p.Arg732His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002602412]	uncertain significance	14	67180822	67180822	Human	1	name
156418852	CV1918854	single nucleotide variant	NM_020806.5(GPHN):c.1142G>A (p.Arg381Gln)	Inborn genetic diseases [RCV003274280]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002612062]	uncertain significance	14	67058784	67058784	Human	2	name
156353004	CV1923755	single nucleotide variant	NM_020806.5(GPHN):c.1297A>G (p.Thr433Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002651041]	uncertain significance	14	67110143	67110143	Human	1	name
155943806	CV1935489	single nucleotide variant	NM_020806.5(GPHN):c.2012T>C (p.Phe671Ser)	not provided [RCV002511235]	uncertain significance	14	67168969	67168969	Human		name
156446197	CV1951232	single nucleotide variant	NM_020806.5(GPHN):c.1049G>A (p.Arg350His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003117164]	uncertain significance	14	67058691	67058691	Human	1	name
156135090	CV2022910	single nucleotide variant	NM_020806.5(GPHN):c.1804A>C (p.Ile602Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002740701]	uncertain significance	14	67143417	67143417	Human	1	name
156147010	CV2026655	single nucleotide variant	NM_020806.5(GPHN):c.2057G>A (p.Arg686Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002741103]\|not provided [RCV004763452]	uncertain significance	14	67169014	67169014	Human	1	name
156208394	CV2042406	single nucleotide variant	NM_020806.5(GPHN):c.1046A>G (p.His349Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002766504]	uncertain significance	14	67058688	67058688	Human	1	name
155973674	CV2062626	single nucleotide variant	NM_020806.5(GPHN):c.1111C>T (p.Pro371Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002842193]	uncertain significance	14	67058753	67058753	Human	1	name
155932474	CV2067398	single nucleotide variant	NM_020806.5(GPHN):c.1544T>C (p.Ile515Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002838843]	uncertain significance	14	67113089	67113089	Human	1	name
155939177	CV2071757	single nucleotide variant	NM_020806.5(GPHN):c.1691T>C (p.Leu564Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002839290]	uncertain significance	14	67122320	67122320	Human	1	name
156324285	CV2072220	single nucleotide variant	NM_020806.5(GPHN):c.2302C>T (p.Arg768Trp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002834912]	uncertain significance	14	67180929	67180929	Human	1	name
156236056	CV2105048	single nucleotide variant	NM_020806.5(GPHN):c.1235G>A (p.Arg412Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002919120]	uncertain significance	14	67089073	67089073	Human	1	name
156095836	CV2110534	single nucleotide variant	NM_020806.5(GPHN):c.1575G>T (p.Glu525Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002926856]	uncertain significance	14	67113120	67113120	Human	1	name
156019679	CV2118514	single nucleotide variant	NM_020806.5(GPHN):c.1469T>C (p.Ile490Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002948712]	uncertain significance	14	67111916	67111916	Human	1	name
156300853	CV2146132	single nucleotide variant	NM_020806.5(GPHN):c.2083T>A (p.Ser695Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003010377]	uncertain significance	14	67179581	67179581	Human	1	name
156021819	CV2148202	single nucleotide variant	NM_020806.5(GPHN):c.1886T>G (p.Phe629Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003018267]	uncertain significance	14	67159464	67159464	Human	1	name
155967674	CV2152292	single nucleotide variant	NM_020806.5(GPHN):c.1702C>T (p.Gln568Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003015783]	pathogenic	14	67122331	67122331	Human	1	name
156233313	CV2153251	single nucleotide variant	NM_020806.5(GPHN):c.1589A>C (p.Lys530Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003025727]	uncertain significance	14	67113134	67113134	Human	1	name
156007067	CV2163089	single nucleotide variant	NM_020806.5(GPHN):c.1480G>A (p.Gly494Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003017546]	uncertain significance	14	67113025	67113025	Human	1	name
156213560	CV2171050	single nucleotide variant	NM_020806.5(GPHN):c.1796A>T (p.Asp599Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003042425]	uncertain significance	14	67143409	67143409	Human	1	name
156233420	CV2173181	single nucleotide variant	NM_020806.5(GPHN):c.1625A>G (p.Glu542Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003059394]	uncertain significance	14	67113170	67113170	Human	1	name
156135071	CV2181473	single nucleotide variant	NM_020806.5(GPHN):c.1658G>A (p.Gly553Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003039835]	uncertain significance	14	67122287	67122287	Human	1	name
156333091	CV2181819	single nucleotide variant	NM_020806.5(GPHN):c.1073C>G (p.Ser358Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003047330]	uncertain significance	14	67058715	67058715	Human	1	name
156136016	CV2188152	single nucleotide variant	NM_020806.5(GPHN):c.1817G>A (p.Gly606Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003056004]	uncertain significance	14	67143430	67143430	Human	1	name
156241164	CV2188890	single nucleotide variant	NM_020806.5(GPHN):c.2056C>T (p.Arg686Trp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003059661]\|not provided [RCV003059662]	uncertain significance	14	67169013	67169013	Human	1	name
156187718	CV2292486	single nucleotide variant	NM_020806.5(GPHN):c.1721C>T (p.Thr574Met)	Inborn genetic diseases [RCV002874052]	uncertain significance	14	67122350	67122350	Human	1	name
243050863	CV2415603	single nucleotide variant	NM_020806.5(GPHN):c.2092G>A (p.Val698Ile)	Inborn genetic diseases [RCV004985308]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003148203]	uncertain significance	14	67179590	67179590	Human	2	name
401796862	CV2739837	single nucleotide variant	NM_020806.5(GPHN):c.2083T>C (p.Ser695Pro)	not provided [RCV003319798]	uncertain significance	14	67179581	67179581	Human		name
401798750	CV2742552	single nucleotide variant	NM_020806.5(GPHN):c.1891A>T (p.Arg631Trp)	not provided [RCV003324996]	uncertain significance	14	67159469	67159469	Human		name
402476493	CV2856339	single nucleotide variant	NM_020806.5(GPHN):c.2162G>T (p.Trp721Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505819]	uncertain significance	14	67179660	67179660	Human	1	name
402476200	CV2862440	single nucleotide variant	NM_020806.5(GPHN):c.1549C>A (p.Leu517Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505765]	uncertain significance	14	67113094	67113094	Human	1	name
402479076	CV2891840	single nucleotide variant	NM_020806.5(GPHN):c.1156C>T (p.Arg386Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003506252]	pathogenic	14	67088994	67088994	Human	1	name
402471481	CV2904251	single nucleotide variant	NM_020806.5(GPHN):c.1906C>T (p.Pro636Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504682]	uncertain significance	14	67159484	67159484	Human	1	name
402471712	CV2908257	single nucleotide variant	NM_020806.5(GPHN):c.1469T>G (p.Ile490Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504738]	uncertain significance	14	67111916	67111916	Human	1	name
402472424	CV2910204	single nucleotide variant	NM_020806.5(GPHN):c.1984G>T (p.Val662Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504900]	uncertain significance	14	67168941	67168941	Human	1	name
402471874	CV2912993	single nucleotide variant	NM_020806.5(GPHN):c.1996G>T (p.Val666Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504775]	uncertain significance	14	67168953	67168953	Human	1	name
402472360	CV2914303	single nucleotide variant	NM_020806.5(GPHN):c.2152C>T (p.Pro718Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504883]	uncertain significance	14	67179650	67179650	Human	1	name
402472382	CV2914455	single nucleotide variant	NM_020806.5(GPHN):c.1805T>G (p.Ile602Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504889]	uncertain significance	14	67143418	67143418	Human	1	name
402472188	CV2919799	single nucleotide variant	NM_020806.5(GPHN):c.1429G>C (p.Glu477Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003504834]	uncertain significance	14	67111876	67111876	Human	1	name
402475452	CV2923545	single nucleotide variant	NM_020806.5(GPHN):c.1834A>T (p.Lys612Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505631]	pathogenic	14	67143447	67143447	Human	1	name
402475727	CV2923702	single nucleotide variant	NM_020806.5(GPHN):c.1130T>A (p.Ile377Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505679]	uncertain significance	14	67058772	67058772	Human	1	name
402475974	CV2924337	single nucleotide variant	NM_020806.5(GPHN):c.1013G>T (p.Ser338Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505724]	uncertain significance	14	67058655	67058655	Human	1	name
402475979	CV2924345	single nucleotide variant	NM_020806.5(GPHN):c.1364A>T (p.Asp455Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505725]	uncertain significance	14	67110210	67110210	Human	1	name
402475108	CV2932075	single nucleotide variant	NM_020806.5(GPHN):c.1223G>T (p.Gly408Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505564]\|not provided [RCV004765914]	uncertain significance	14	67089061	67089061	Human	1	name
405115950	CV2978596	single nucleotide variant	NM_020806.5(GPHN):c.1165G>C (p.Ala389Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616410]	uncertain significance	14	67089003	67089003	Human	1	name
405116596	CV2980052	single nucleotide variant	NM_020806.5(GPHN):c.2054C>G (p.Pro685Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616492]	uncertain significance	14	67169011	67169011	Human	1	name
405120106	CV3019910	single nucleotide variant	NM_020806.5(GPHN):c.1255G>C (p.Asp419His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616937]	uncertain significance	14	67100873	67100873	Human	1	name
405120023	CV3026166	single nucleotide variant	NM_020806.5(GPHN):c.1789C>T (p.Arg597Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616927]	uncertain significance	14	67143402	67143402	Human	1	name
405119730	CV3028957	single nucleotide variant	NM_020806.5(GPHN):c.1053G>A (p.Met351Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616890]	uncertain significance	14	67058695	67058695	Human	1	name
405120279	CV3030556	single nucleotide variant	NM_020806.5(GPHN):c.1481G>T (p.Gly494Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003616959]	uncertain significance	14	67113026	67113026	Human	1	name
405122457	CV3045908	single nucleotide variant	NM_020806.5(GPHN):c.1258C>T (p.Arg420Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617228]	uncertain significance	14	67100876	67100876	Human	1	name
405122075	CV3054806	single nucleotide variant	NM_020806.5(GPHN):c.1112C>T (p.Pro371Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003617179]	uncertain significance	14	67058754	67058754	Human	1	name
405111385	CV3070209	single nucleotide variant	NM_020806.5(GPHN):c.1226A>G (p.Tyr409Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003615637]	uncertain significance	14	67089064	67089064	Human	1	name
405209084	CV3117207	single nucleotide variant	NM_020806.5(GPHN):c.1466A>T (p.Asp489Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003822994]	uncertain significance	14	67111913	67111913	Human	1	name
405206940	CV3126764	single nucleotide variant	NM_020806.5(GPHN):c.1453C>T (p.Arg485Trp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003822698]	uncertain significance	14	67111900	67111900	Human	1	name
405128416	CV3132987	single nucleotide variant	NM_020806.5(GPHN):c.1475C>A (p.Pro492His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003838150]	uncertain significance	14	67113020	67113020	Human	1	name
405186273	CV3149051	single nucleotide variant	NM_020806.5(GPHN):c.1528A>G (p.Met510Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003842975]	uncertain significance	14	67113073	67113073	Human	1	name
405171956	CV3150127	single nucleotide variant	NM_020806.5(GPHN):c.2108G>A (p.Arg703His)	Inborn genetic diseases [RCV004981092]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003841598]	uncertain significance	14	67179606	67179606	Human	2	name
405247051	CV3158665	single nucleotide variant	NM_020806.5(GPHN):c.1028C>G (p.Thr343Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003869007]	uncertain significance	14	67058670	67058670	Human	1	name
405183890	CV3159758	single nucleotide variant	NM_020806.5(GPHN):c.1733G>A (p.Gly578Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003859009]	uncertain significance	14	67122362	67122362	Human	1	name
402483204	CV3170969	single nucleotide variant	NM_020806.5(GPHN):c.1268T>C (p.Ile423Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003876172]	uncertain significance	14	67100886	67100886	Human	1	name
405788515	CV3255014	single nucleotide variant	NM_020806.5(GPHN):c.1357G>A (p.Gly453Ser)	Inborn genetic diseases [RCV004388162]	uncertain significance	14	67110203	67110203	Human	1	name
407525972	CV3440014	single nucleotide variant	NM_020806.5(GPHN):c.1559C>G (p.Thr520Ser)	Inborn genetic diseases [RCV004632287]	uncertain significance	14	67113104	67113104	Human	1	name
408392636	CV3528203	single nucleotide variant	NM_020806.5(GPHN):c.1547G>C (p.Gly516Ala)	not provided [RCV004775971]	uncertain significance	14	67113092	67113092	Human		name
597683758	CV3688499	single nucleotide variant	NM_020806.5(GPHN):c.1549C>T (p.Leu517Phe)	Inborn genetic diseases [RCV004983767]	uncertain significance	14	67113094	67113094	Human	1	name
597932149	CV3742616	single nucleotide variant	NM_020806.5(GPHN):c.1326G>A (p.Met442Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005076055]	uncertain significance	14	67110172	67110172	Human	1	name
597897560	CV3744632	single nucleotide variant	NM_020806.5(GPHN):c.1327C>T (p.Arg443Trp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005071911]	uncertain significance	14	67110173	67110173	Human	1	name
597862642	CV3745209	single nucleotide variant	NM_020806.5(GPHN):c.1556C>A (p.Ala519Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005067565]	uncertain significance	14	67113101	67113101	Human	1	name
597883912	CV3745414	single nucleotide variant	NM_020806.5(GPHN):c.1436G>A (p.Arg479Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005070250]	uncertain significance	14	67111883	67111883	Human	1	name
597934972	CV3759348	single nucleotide variant	NM_020806.5(GPHN):c.1166C>T (p.Ala389Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005076468]	uncertain significance	14	67089004	67089004	Human	1	name
597934353	CV3777035	single nucleotide variant	NM_020806.5(GPHN):c.1928C>A (p.Ala643Glu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005117194]	uncertain significance	14	67165179	67165179	Human	1	name
597942549	CV3779942	single nucleotide variant	NM_020806.5(GPHN):c.2231T>C (p.Met744Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005118951]	uncertain significance	14	67180858	67180858	Human	1	name
597906874	CV3781397	single nucleotide variant	NM_020806.5(GPHN):c.1724T>G (p.Ile575Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005128085]	uncertain significance	14	67122353	67122353	Human	1	name
597926976	CV3783389	single nucleotide variant	NM_020806.5(GPHN):c.1198C>T (p.Pro400Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005116076]	uncertain significance	14	67089036	67089036	Human	1	name
597963413	CV3791939	single nucleotide variant	NM_020806.5(GPHN):c.1996G>A (p.Val666Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005139495]	uncertain significance	14	67168953	67168953	Human	1	name
597975157	CV3798771	single nucleotide variant	NM_020806.5(GPHN):c.1082A>G (p.Lys361Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005144360]	uncertain significance	14	67058724	67058724	Human	1	name
597946634	CV3800185	single nucleotide variant	NM_020806.5(GPHN):c.1694C>G (p.Ala565Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005134877]	uncertain significance	14	67122323	67122323	Human	1	name
597854234	CV3805927	single nucleotide variant	NM_020806.5(GPHN):c.1781G>T (p.Gly594Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005145857]	uncertain significance	14	67143394	67143394	Human	1	name
597938765	CV3808310	single nucleotide variant	NM_020806.5(GPHN):c.1172A>G (p.Asp391Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005158498]	uncertain significance	14	67089010	67089010	Human	1	name
597957075	CV3838414	single nucleotide variant	NM_020806.5(GPHN):c.1848G>T (p.Lys616Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005191789]\|not provided [RCV005402257]	uncertain significance	14	67159426	67159426	Human	1	name
597888311	CV3839215	single nucleotide variant	NM_020806.5(GPHN):c.1339G>T (p.Gly447Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005179301]	uncertain significance	14	67110185	67110185	Human	1	name
597954878	CV3844533	single nucleotide variant	NM_020806.5(GPHN):c.2210G>A (p.Arg737His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005191207]	uncertain significance	14	67180837	67180837	Human	1	name
597950248	CV3846754	single nucleotide variant	NM_020806.5(GPHN):c.1993G>T (p.Val665Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005189925]	uncertain significance	14	67168950	67168950	Human	1	name
597856672	CV3849753	single nucleotide variant	NM_020806.5(GPHN):c.1463A>G (p.Gln488Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005195262]	pathogenic	14	67111910	67111910	Human	1	name
598127374	CV3882626	single nucleotide variant	NM_020806.5(GPHN):c.1741G>C (p.Gly581Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV005234156]	uncertain significance	14	67122370	67122370	Human	1	name
598125771	CV3885931	single nucleotide variant	NM_020806.5(GPHN):c.1825A>G (p.Met609Val)	not provided [RCV005241734]	uncertain significance	14	67143438	67143438	Human		name
598274029	CV3970916	single nucleotide variant	NM_020806.5(GPHN):c.1556C>G (p.Ala519Gly)	Inborn genetic diseases [RCV005351214]	uncertain significance	14	67113101	67113101	Human	1	name
12892710	CV404818	single nucleotide variant	NM_020806.5(GPHN):c.1831G>A (p.Glu611Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000477777]	uncertain significance	14	67143444	67143444	Human	1	name
12906350	CV415402	single nucleotide variant	NM_020806.5(GPHN):c.1586A>G (p.Asn529Ser)	not provided [RCV000489111]	uncertain significance	14	67113131	67113131	Human		name
13493908	CV463433	single nucleotide variant	NM_020806.5(GPHN):c.1558A>T (p.Thr520Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000558518]	uncertain significance	14	67113103	67113103	Human	1	name
13495196	CV464337	single nucleotide variant	NM_020806.5(GPHN):c.1946G>T (p.Gly649Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000559449]	uncertain significance	14	67165197	67165197	Human	1	name
13612090	CV528268	single nucleotide variant	NM_020806.5(GPHN):c.1004C>A (p.Ala335Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642142]	uncertain significance	14	67023673	67023673	Human	1	name
13612080	CV528336	single nucleotide variant	NM_020806.5(GPHN):c.1238C>T (p.Ala413Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642139]	uncertain significance	14	67100856	67100856	Human	1	name
13612082	CV528703	single nucleotide variant	NM_020806.5(GPHN):c.2192G>C (p.Ser731Thr)	GPHN-related disorder [RCV003918034]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000642140]	likely benign\|uncertain significance	14	67180819	67180819	Human	1	name , trait , alternate_id
13821447	CV568236	single nucleotide variant	NM_020806.5(GPHN):c.1243G>T (p.Asp415Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000695899]	uncertain significance	14	67100861	67100861	Human	1	name
13822312	CV568237	single nucleotide variant	NM_020806.5(GPHN):c.1678C>T (p.Arg560Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000697127]	uncertain significance	14	67122307	67122307	Human	1	name
13810038	CV568238	single nucleotide variant	NM_020806.5(GPHN):c.2226G>T (p.Leu742Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000688046]	uncertain significance	14	67180853	67180853	Human	1	name
14712955	CV642635	single nucleotide variant	NM_020806.5(GPHN):c.1033G>A (p.Val345Met)	Inborn genetic diseases [RCV002535949]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000822388]	uncertain significance	14	67058675	67058675	Human	2	name
14709564	CV642636	single nucleotide variant	NM_020806.5(GPHN):c.1333A>C (p.Thr445Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000812281]	uncertain significance	14	67110179	67110179	Human	1	name
14708116	CV642637	single nucleotide variant	NM_020806.5(GPHN):c.1666C>T (p.Arg556Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000808752]	pathogenic	14	67122295	67122295	Human	1	name
14713767	CV642638	single nucleotide variant	NM_020806.5(GPHN):c.1766A>G (p.Asn589Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000824391]	uncertain significance	14	67143379	67143379	Human	1	name
26913942	CV841671	single nucleotide variant	NM_020806.5(GPHN):c.1092C>G (p.Ile364Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001040358]	uncertain significance	14	67058734	67058734	Human	1	name
26898816	CV841672	single nucleotide variant	NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001034808]	uncertain significance	14	67122373	67122373	Human	1	name
8635259	CV90481	single nucleotide variant	NM_020806.4(GPHN):c.1898T>A (p.Phe633Tyr)	Malignant melanoma [RCV000070579]	not provided	14	67159476	67159476	Human		name
38472768	CV936686	single nucleotide variant	NM_020806.5(GPHN):c.1048C>T (p.Arg350Cys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001203111]	uncertain significance	14	67058690	67058690	Human	1	name
38477398	CV936687	single nucleotide variant	NM_020806.5(GPHN):c.1738G>A (p.Val580Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001205073]	uncertain significance	14	67122367	67122367	Human	1	name
8573617	CV94254	single nucleotide variant	NM_020806.5(GPHN):c.1838A>C (p.Asp613Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV000074361]	pathogenic	14	67159416	67159416	Human	1	name
38489044	CV948633	single nucleotide variant	NM_020806.5(GPHN):c.1769C>T (p.Ala590Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001238253]	uncertain significance	14	67143382	67143382	Human	1	name
38472391	CV948634	single nucleotide variant	NM_020806.5(GPHN):c.2209C>G (p.Arg737Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001231499]	uncertain significance	14	67180836	67180836	Human	1	name
38492122	CV957264	single nucleotide variant	NM_020806.5(GPHN):c.1945G>A (p.Gly649Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001239911]	uncertain significance	14	67165196	67165196	Human	1	name
126908673	CV969953	single nucleotide variant	NM_020806.5(GPHN):c.1471A>T (p.Arg491Ter)	Hereditary breast ovarian cancer syndrome [RCV001374503]	uncertain significance	14	67111918	67111918	Human	1	name
126737443	CV995943	single nucleotide variant	NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln)	Inborn genetic diseases [RCV002544986]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001304877]	uncertain significance	14	67110174	67110174	Human	2	name
126725966	CV995944	single nucleotide variant	NM_020806.5(GPHN):c.1819G>A (p.Val607Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001302744]	uncertain significance	14	67143432	67143432	Human	1	name
126760888	CV995945	single nucleotide variant	NM_020806.5(GPHN):c.1930A>G (p.Thr644Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001309439]	uncertain significance	14	67165181	67165181	Human	1	name
126739202	CV995946	single nucleotide variant	NM_020806.5(GPHN):c.2176G>A (p.Gly726Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001305097]	uncertain significance	14	67179674	67179674	Human	1	name
151814360	CV1485452	insertion	NM_020806.5(GPHN):c.1414-13_1414-12insTCGG	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002029283]	likely benign\|uncertain significance	14	67111845	67111846	Human	1	name
155794428	CV1858552	deletion	NM_020806.5(GPHN):c.828+16787_828+16846del	Schizophrenia [RCV002463514]	uncertain significance	14	66941079	66941138	Human	2	name
150546577	CV1301075	microsatellite	NM_020806.5(GPHN):c.577_578del (p.Leu193fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003771985]\|not provided [RCV001763558]	pathogenic\|likely pathogenic\|uncertain significance	14	66922784	66922785	Human		name
155940164	CV2071564	microsatellite	NM_020806.5(GPHN):c.770_771del (p.His257fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002861720]	pathogenic	14	66924231	66924232	Human		name
402475155	CV2929072	microsatellite	NM_020806.5(GPHN):c.704_705del (p.Ile235fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV003505574]	pathogenic	14	66922910	66922911	Human		name
151798524	CV1467049	deletion	NM_020806.5(GPHN):c.652_654del (p.Glu218del)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001898840]	uncertain significance	14	66922861	66922863	Human	1	name
155952349	CV2076472	microsatellite	NM_020806.5(GPHN):c.1918ACA[1] (p.Thr641del)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002862415]	uncertain significance	14	67165167	67165169	Human		name
127262784	CV1063123	duplication	NM_020806.5(GPHN):c.1156_1159dup (p.Val387fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV001380809]	pathogenic	14	67088992	67088993	Human	1	name
155956785	CV2087034	insertion	NM_020806.5(GPHN):c.802_803insG (p.Tyr268Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002862648]	pathogenic	14	66924266	66924267	Human	1	name
156318968	CV2090518	deletion	NM_020806.5(GPHN):c.1560del (p.Thr520_Val521insTer)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002899166]	pathogenic	14	67113105	67113105	Human	1	name
155994341	CV2063935	microsatellite	NM_020806.5(GPHN):c.639GGAAGA[1] (p.Glu217_Glu218del)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [RCV002843109]	uncertain significance	14	66922846	66922851	Human		name

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